R56H (p.Arg56His) variant of KRT14 (Keratin, type I cytoskeletal 14)
R56H (p.Arg56His) in KRT14 (Keratin, type I cytoskeletal 14) 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 0.45 / 1. The record also includes population frequency data and structural context.
R56H (p.Arg56His) variant details
- p.Arg56His
- rs1427865521
- NCI-TCGA Cosmic COSV5142
- gnomAD rs1427865521
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.35
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available