DIPK2B p.Arg45=
c.133A>C · rs2523701916 · VCV2660377
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 1.3 | GERP -1.8, phastCons 1 |
| Overall | ||
| CADD | 8.377 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DIPK2B
- Protein
- p.Arg45=
- Coding
- c.133A>C
- MANE Select
- NM_176819
- dbSNP
- rs2523701916
- Type
- single nucleotide variant
- Location
- chrX:45200694 (GRCh38)
- Structure
- AlphaFold pLDDT 84.17
Similar variants
- DIPK2B p.Ala133Glu Benign ★★ same type
- DIPK2B p.Lys364= Benign ★★ same type
- DIPK2B p.Thr138Ser Uncertain significance ★ ⚠ same type
- DIPK2B c.499-4G>T Likely benign ★ same type
- DIPK2B c.499-7C>T Likely benign ★ same type
- DIPK2B p.Ala328= Likely benign ★ same type
- DIPK2B p.Ile225= Likely benign ★ same type
- DIPK2B p.Lys70Asn 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/dipk2b-p-arg45 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown