A88V (p.Ala88Val) variant of KRT12 (Keratin, type I cytoskeletal 12)
A88V (p.Ala88Val) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A88V (p.Ala88Val) variant details
- p.Ala88Val
- rs999519108
- NCI-TCGA Cosmic COSV5243
- TOPMed rs999519108
- gnomAD rs999519108
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.13
- CADD 13.90
- PolyPhen-2 0.08
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available