G41E (p.Gly41Glu) variant of KRT1 (Keratin, type II cytoskeletal 1)
G41E (p.Gly41Glu) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G41E (p.Gly41Glu) variant details
- p.Gly41Glu
- ExAC rs780491184
- TOPMed rs780491184
- gnomAD rs780491184
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.50
- AlphaMissense 0.07
- MetaLR 0.48
- MetaSVM -0.07
- CADD 23.40
- PolyPhen-2 0.63
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available