P26S (p.Pro26Ser) variant of CDK4 (Cyclin-dependent kinase 4)
P26S (p.Pro26Ser) in CDK4 (Cyclin-dependent kinase 4) is a missense change. Clinical records from ClinVar 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 0.36 / 1. The record also includes population frequency data and structural context.
P26S (p.Pro26Ser) variant details
- p.Pro26Ser
- cosmic curated COSV56983
- Ensembl rs1955238972
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.10
- CADD 21.20
- PolyPhen-2 0.02
- SIFT 0.73
- ClinVar: Uncertain significance (Familial melanoma)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available