G41S (p.Gly41Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
G41S (p.Gly41Ser) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G41S (p.Gly41Ser) variant details
- p.Gly41Ser
- ExAC rs775353075
- TOPMed rs775353075
- gnomAD rs775353075
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.32
- CADD 22.90
- PolyPhen-2 0.48
- SIFT 0.56
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available