G113D (p.Gly113Asp) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G113D (p.Gly113Asp) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G113D (p.Gly113Asp) variant details
- p.Gly113Asp
- Ensembl rs1940407775
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.58
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available