Q22R (p.Gln22Arg) variant of KRT13 (Keratin, type I cytoskeletal 13)
Q22R (p.Gln22Arg) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q22R (p.Gln22Arg) variant details
- p.Gln22Arg
- ExAC rs747217763
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.15
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available