L125F (p.Leu125Phe) variant of KRT8 (Keratin, type II cytoskeletal 8)
L125F (p.Leu125Phe) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
L125F (p.Leu125Phe) variant details
- p.Leu125Phe
- gnomAD rs1431281990
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 23.20
- PolyPhen-2 0.42
- SIFT 0.05
- Most common in the HGDP:YAKUT population (allele frequency 0.04)