T78S (p.Thr78Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
T78S (p.Thr78Ser) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
T78S (p.Thr78Ser) variant details
- p.Thr78Ser
- ExAC rs754297557
- gnomAD rs754297557
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.12
- CADD 7.19
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available