G55A (p.Gly55Ala) variant of KRT13 (Keratin, type I cytoskeletal 13)
G55A (p.Gly55Ala) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G55A (p.Gly55Ala) variant details
- p.Gly55Ala
- ExAC rs757012196
- gnomAD rs757012196
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.19
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available