G28D (p.Gly28Asp) variant of KRT12 (Keratin, type I cytoskeletal 12)
G28D (p.Gly28Asp) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- Ensembl rs909101576
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.27
- CADD 22.40
- PolyPhen-2 0.15
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available