Q109H (p.Gln109His) variant of KRT13 (Keratin, type I cytoskeletal 13)
Q109H (p.Gln109His) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
Q109H (p.Gln109His) variant details
- p.Gln109His
- cosmic curated COSV55842
- gnomAD rs1372015033
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.82
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available