S91R (p.Ser91Arg) variant of KRT10 (Keratin, type I cytoskeletal 10)
S91R (p.Ser91Arg) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
S91R (p.Ser91Arg) variant details
- p.Ser91Arg
- ExAC rs759192704
- gnomAD rs759192704
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.37
- CADD 2.44
- PolyPhen-2 0.47
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)