D138E (p.Asp138Glu) variant of KRT13 (Keratin, type I cytoskeletal 13)
D138E (p.Asp138Glu) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D138E (p.Asp138Glu) variant details
- p.Asp138Glu
- gnomAD rs1224223882
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.29
- CADD 15.10
- PolyPhen-2 0.41
- SIFT 0.74
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available