G81C (p.Gly81Cys) variant of KRT14 (Keratin, type I cytoskeletal 14)
G81C (p.Gly81Cys) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G81C (p.Gly81Cys) variant details
- p.Gly81Cys
- Ensembl rs1907538115
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.57
- CADD 15.20
- PolyPhen-2 0.37
- SIFT 0.15
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available