S84R (p.Ser84Arg) variant of KRT9 (Keratin, type I cytoskeletal 9)
S84R (p.Ser84Arg) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S84R (p.Ser84Arg) variant details
- p.Ser84Arg
- 1000Genomes rs563000405
- ExAC rs563000405
- TOPMed rs563000405
- gnomAD rs563000405
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.45
- CADD 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available