V20A (p.Val20Ala) variant of CDK4 (Cyclin-dependent kinase 4)
V20A (p.Val20Ala) 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 Familial melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- rs755549181
- ClinGen CA6657888
- ClinVar RCV003840393
- ExAC rs755549181
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 0.95
- MetaLR 0.59
- MetaSVM 0.29
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.75
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)