R30H (p.Arg30His) variant of KRT16 (Keratin, type I cytoskeletal 16)
R30H (p.Arg30His) 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 0.31 / 1. The record also includes population frequency data and structural context.
R30H (p.Arg30His) variant details
- p.Arg30His
- rs765215802
- NCI-TCGA Cosmic COSV5696
- 1000Genomes rs765215802
- ExAC rs765215802
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.28
- CADD 22.50
- PolyPhen-2 0.64
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available