A128T (p.Ala128Thr) variant of KRT3 (Keratin, type II cytoskeletal 3)
A128T (p.Ala128Thr) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A128T (p.Ala128Thr) variant details
- p.Ala128Thr
- gnomAD rs1387109524
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.08
- CADD 8.63
- PolyPhen-2 0.11
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available