R32H (p.Arg32His) variant of KRT8 (Keratin, type II cytoskeletal 8)
R32H (p.Arg32His) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R32H (p.Arg32His) variant details
- p.Arg32His
- cosmic curated COSV10963
- ExAC rs778111216
- TOPMed rs778111216
- gnomAD rs778111216
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available