V14A (p.Val14Ala) variant of CDK4 (Cyclin-dependent kinase 4)
V14A (p.Val14Ala) 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 0.32 / 1. The record also includes published literature and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- rs2140388699
- ClinGen CA385549125
- ClinVar RCV003746224
- Ensembl rs2140388699
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.19
- MetaLR 0.11
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.25
- MutPred 0.55
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)