G123R (p.Gly123Arg) variant of KRT10 (Keratin, type I cytoskeletal 10)
G123R (p.Gly123Arg) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
G123R (p.Gly123Arg) variant details
- p.Gly123Arg
- ExAC rs754935101
- gnomAD rs754935101
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.36
- CADD 16.30
- PolyPhen-2 0.95
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)