G12W (p.Gly12Trp) variant of KRT5 (Keratin, type II cytoskeletal 5)
G12W (p.Gly12Trp) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G12W (p.Gly12Trp) variant details
- p.Gly12Trp
- ExAC rs751876144
- TOPMed rs751876144
- gnomAD rs751876144
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.33
- CADD 24.20
- PolyPhen-2 0.74
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available