S82R (p.Ser82Arg) variant of KRT9 (Keratin, type I cytoskeletal 9)
S82R (p.Ser82Arg) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. 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.
S82R (p.Ser82Arg) variant details
- p.Ser82Arg
- TOPMed rs1355171152
- gnomAD rs1355171152
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.41
- CADD 6.85
- PolyPhen-2 0.92
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available