A23T (p.Ala23Thr) variant of KRT6A (Keratin, type II cytoskeletal 6A)
A23T (p.Ala23Thr) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- Ensembl rs1406917541
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.31
- CADD 24.50
- PolyPhen-2 0.89
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available