CDK6 p.Pro217=
c.651T>C · rs766781363 · VCV739663
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.105%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.83 | GERP -0.032, phastCons 0.97 |
| Overall | ||
| CADD | 9.585 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.105%
Admixed American · 62/59,042 alleles
Filtering AF
0.084%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0764%
Overall
0.00395%
62/1,569,684 alleles · rare
exomes 58/1,417,520 · genomes 4/152,164 · joint denominator
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
- CDK6
- Protein
- p.Pro217=
- Coding
- c.651T>C
- MANE Select
- NM_001145306
- dbSNP
- rs766781363
- Type
- single nucleotide variant
- Location
- chr7:92623083 (GRCh38)
- Gene constraint
- LOEUF 0.412 · pLI 1.00 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 85.81 · 22 PDB
- Residue 217
- the protein kinase domain
Similar variants
- CDK6 c.370-118G>A Benign ★★ same type
- CDK6 c.537+257A>T Benign ★★ same type
- CDK6 c.538-14G>A Benign ★★ same type
- CDK6 c.647+153C>T Benign ★★ same type
- CDK6 c.698+147G>C Benign ★★ same type
- CDK6 c.699-18T>C Benign ★★ same type
- CDK6 c.834+53T>C Benign ★★ same type
- CDK6 c.*32G>A Benign ★★ 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/cdk6-p-pro217 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown