V79G (p.Val79Gly) variant of CDK2 (Cyclin-dependent kinase 2)
V79G (p.Val79Gly) in CDK2 (Cyclin-dependent kinase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
V79G (p.Val79Gly) variant details
- p.Val79Gly
- rs369617221
- ClinGen CA6620430
- ClinVar RCV004167666
- ESP rs369617221
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.85
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available