G55W (p.Gly55Trp) variant of KRT9 (Keratin, type I cytoskeletal 9)
G55W (p.Gly55Trp) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G55W (p.Gly55Trp) variant details
- p.Gly55Trp
- rs772792541
- ExAC rs772792541
- gnomAD rs772792541
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.30
- CADD 22.50
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available