G24R (p.Gly24Arg) variant of KRT13 (Keratin, type I cytoskeletal 13)
G24R (p.Gly24Arg) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. 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.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- ExAC rs748231018
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.44
- CADD 25.20
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available