G54R (p.Gly54Arg) variant of KRT12 (Keratin, type I cytoskeletal 12)
G54R (p.Gly54Arg) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of KRT12-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- rs141949869
- 1000Genomes rs141949869
- ESP rs141949869
- ExAC rs141949869
- Benign
- KRT12-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.25
- CADD 16.10
- PolyPhen-2 0.09
- SIFT 0.08
- ClinVar: Benign (KRT12-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available