G129E (p.Gly129Glu) variant of KRT10 (Keratin, type I cytoskeletal 10)
G129E (p.Gly129Glu) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
G129E (p.Gly129Glu) variant details
- p.Gly129Glu
- ExAC rs767159695
- gnomAD rs767159695
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.46
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the HGDP:FRENCH population (allele frequency 0.019)