N90H (p.Asn90His) variant of KRT17 (Keratin, type I cytoskeletal 17)
N90H (p.Asn90His) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N90H (p.Asn90His) variant details
- p.Asn90His
- gnomAD rs1469282035
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.49
- CADD 23.90
- PolyPhen-2 0.11
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available