A81D (p.Ala81Asp) variant of KRT17 (Keratin, type I cytoskeletal 17)
A81D (p.Ala81Asp) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A81D (p.Ala81Asp) variant details
- p.Ala81Asp
- ExAC rs769139580
- TOPMed rs769139580
- gnomAD rs769139580
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.14
- CADD 5.79
- PolyPhen-2 0.08
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available