V52I (p.Val52Ile) variant of KRT16 (Keratin, type I cytoskeletal 16)
V52I (p.Val52Ile) 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 0.30 / 1. The record also includes population frequency data and structural context.
V52I (p.Val52Ile) variant details
- p.Val52Ile
- rs751458816
- ExAC rs751458816
- gnomAD rs751458816
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.19
- CADD 18.80
- PolyPhen-2 0.58
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available