G109S (p.Gly109Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
G109S (p.Gly109Ser) 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.
G109S (p.Gly109Ser) variant details
- p.Gly109Ser
- ExAC rs753671394
- TOPMed rs753671394
- gnomAD rs753671394
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.17
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available