T19A (p.Thr19Ala) variant of KRT5 (Keratin, type II cytoskeletal 5)
T19A (p.Thr19Ala) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T19A (p.Thr19Ala) variant details
- p.Thr19Ala
- ExAC rs769963375
- gnomAD rs769963375
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.03
- CADD 3.31
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available