A46T (p.Ala46Thr) variant of KRT12 (Keratin, type I cytoskeletal 12)
A46T (p.Ala46Thr) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- ExAC rs754340055
- gnomAD rs754340055
- Missense
- Variant Prioritization Score for Impact Estimate 0.0925
- REVEL 0.10
- CADD 1.29
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available