G44D (p.Gly44Asp) variant of KRT13 (Keratin, type I cytoskeletal 13)
G44D (p.Gly44Asp) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G44D (p.Gly44Asp) variant details
- p.Gly44Asp
- TOPMed rs1254176560
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.25
- CADD 22.60
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available