G93D (p.Gly93Asp) variant of KRT14 (Keratin, type I cytoskeletal 14)
G93D (p.Gly93Asp) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G93D (p.Gly93Asp) variant details
- p.Gly93Asp
- Ensembl rs1597799907
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.61
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available