A86T (p.Ala86Thr) variant of KRT17 (Keratin, type I cytoskeletal 17)
A86T (p.Ala86Thr) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A86T (p.Ala86Thr) variant details
- p.Ala86Thr
- TOPMed rs1421175248
- gnomAD rs1421175248
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.27
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.40
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available