R39S (p.Arg39Ser) variant of USH2A (Usherin)
R39S (p.Arg39Ser) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, 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 0.27 / 1. The record also includes population frequency data and structural context.
R39S (p.Arg39Ser) variant details
- p.Arg39Ser
- rs761822130
- ClinGen CA1396853
- ClinVar RCV002659543
- ExAC rs761822130
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.22
- CADD 22.80
- PolyPhen-2 0.92
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available