G60W (p.Gly60Trp) variant of KRT14 (Keratin, type I cytoskeletal 14)
G60W (p.Gly60Trp) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G60W (p.Gly60Trp) variant details
- p.Gly60Trp
- TOPMed rs1367015717
- gnomAD rs1367015717
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.46
- CADD 23.40
- PolyPhen-2 0.87
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available