G87R (p.Gly87Arg) variant of KRT9 (Keratin, type I cytoskeletal 9)
G87R (p.Gly87Arg) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G87R (p.Gly87Arg) variant details
- p.Gly87Arg
- ExAC rs746424414
- gnomAD rs746424414
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.48
- CADD 7.18
- PolyPhen-2 0.15
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available