G104E (p.Gly104Glu) variant of KRT5 (Keratin, type II cytoskeletal 5)
G104E (p.Gly104Glu) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G104E (p.Gly104Glu) variant details
- p.Gly104Glu
- ExAC rs757370875
- gnomAD rs757370875
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.25
- CADD 24.70
- PolyPhen-2 0.78
- SIFT 0.04
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available