CDK5 p.Val251=
c.753C>T · rs763777369 · VCV736427
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.016%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.09 | GERP -3.2, phastCons 0.13 |
| Overall | ||
| CADD | 2.185 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.016%
African / African-American · 12/74,900 alleles
Filtering AF
0.00922%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00722%
Overall
0.00149%
24/1,613,500 alleles · ultra-rare
exomes 17/1,461,358 · genomes 7/152,142 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.016% | 6,242 |
| Finnishnot grpmax-eligible | 0.00625% | 16,001 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,454 |
| South Asian | 0.0011% | 91,006 |
| European (non-Finnish) | 0.000509% | 196,622 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CDK5
- Protein
- p.Val251=
- Coding
- c.753C>T
- MANE Select
- NM_004935
- dbSNP
- rs763777369
- Type
- single nucleotide variant
- Location
- chr7:151054251 (GRCh38)
- Gene constraint
- LOEUF 0.584 · pLI 0.56 (gnomAD)
- Structure
- AlphaFold pLDDT 91.83 · 12 PDB
- Residue 251
- the protein kinase domain
Similar variants
- CDK5 p.Met230Val Uncertain significance ★★ ⚠ same type
- CDK5 c.194+12G>A Benign/Likely benign ★★ same type
- CDK5 c.312+3G>A Benign ★★ same type
- CDK5 c.408+9T>C Likely benign ★★ same type
- CDK5 c.483+11A>C Benign ★★ same type
- CDK5 p.Pro240= Likely benign ★★ same type
- CDK5 p.Ser72= Benign/Likely benign ★★ same type
- CDK5 p.Arg50Gln Likely pathogenic ★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cdk5-p-val251 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown