V28I (p.Val28Ile) variant of KRT6B (Keratin, type II cytoskeletal 6B)
V28I (p.Val28Ile) in KRT6B (Keratin, type II cytoskeletal 6B) 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 0.35 / 1. The record also includes population frequency data and structural context.
V28I (p.Val28Ile) variant details
- p.Val28Ile
- rs761093716
- NCI-TCGA Cosmic COSV5288
- ExAC rs761093716
- gnomAD rs761093716
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.12
- CADD 8.22
- PolyPhen-2 0.01
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available