G40E (p.Gly40Glu) variant of KRT13 (Keratin, type I cytoskeletal 13)
G40E (p.Gly40Glu) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G40E (p.Gly40Glu) variant details
- p.Gly40Glu
- cosmic curated COSV55839
- ExAC rs144144601
- TOPMed rs144144601
- gnomAD rs144144601
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.38
- CADD 18.80
- PolyPhen-2 0.92
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available