A96S (p.Ala96Ser) variant of KRT17 (Keratin, type I cytoskeletal 17)
A96S (p.Ala96Ser) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
A96S (p.Ala96Ser) variant details
- p.Ala96Ser
- ExAC rs754891141
- TOPMed rs754891141
- gnomAD rs754891141
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.86
- CADD 25.50
- PolyPhen-2 0.67
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available