R30H (p.Arg30His) variant of KRT6A (Keratin, type II cytoskeletal 6A)
R30H (p.Arg30His) in KRT6A (Keratin, type II cytoskeletal 6A) 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 0.19 / 1. The record also includes population frequency data and structural context.
R30H (p.Arg30His) variant details
- p.Arg30His
- rs1308335675
- NCI-TCGA Cosmic COSV5810
- TOPMed rs1308335675
- gnomAD rs1308335675
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.07
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available