G45S (p.Gly45Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
G45S (p.Gly45Ser) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G45S (p.Gly45Ser) variant details
- p.Gly45Ser
- ExAC rs756838467
- gnomAD rs756838467
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.24
- CADD 16.50
- PolyPhen-2 0.12
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available