G74R (p.Gly74Arg) variant of KRT12 (Keratin, type I cytoskeletal 12)
G74R (p.Gly74Arg) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G74R (p.Gly74Arg) variant details
- p.Gly74Arg
- ESP rs138169839
- ExAC rs138169839
- TOPMed rs138169839
- gnomAD rs138169839
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.26
- CADD 8.10
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available