G100R (p.Gly100Arg) variant of KRT12 (Keratin, type I cytoskeletal 12)
G100R (p.Gly100Arg) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G100R (p.Gly100Arg) variant details
- p.Gly100Arg
- ExAC rs760663730
- gnomAD rs760663730
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.32
- CADD 18.90
- PolyPhen-2 0.66
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available