V32A (p.Val32Ala) variant of CDK4 (Cyclin-dependent kinase 4)
V32A (p.Val32Ala) in CDK4 (Cyclin-dependent kinase 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Melanoma, cutaneous malignant, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V32A (p.Val32Ala) variant details
- p.Val32Ala
- gnomAD rs1425071781
- Uncertain significance
- Melanoma, cutaneous malignant, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.51
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Melanoma, cutaneous malignant, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available