G60E (p.Gly60Glu) variant of KRT14 (Keratin, type I cytoskeletal 14)
G60E (p.Gly60Glu) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G60E (p.Gly60Glu) variant details
- p.Gly60Glu
- TOPMed rs1907543300
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.37
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available