V34I (p.Val34Ile) variant of KRT16 (Keratin, type I cytoskeletal 16)
V34I (p.Val34Ile) in KRT16 (Keratin, type I cytoskeletal 16) 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 0.29 / 1. The record also includes population frequency data and structural context.
V34I (p.Val34Ile) variant details
- p.Val34Ile
- rs530326477
- NCI-TCGA Cosmic COSV5696
- 1000Genomes rs530326477
- ExAC rs530326477
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.06
- CADD 3.25
- PolyPhen-2 0.00
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available