R39K (p.Arg39Lys) variant of USH2A (Usherin)
R39K (p.Arg39Lys) 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 0.31 / 1. The record also includes structural context.
R39K (p.Arg39Lys) variant details
- p.Arg39Lys
- rs2102789073
- ClinGen CA344904988
- cosmic curated COSV10731
- ClinVar RCV001905276
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.05
- PolyPhen-2 0.78
- SIFT 0.27
- MutPred 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available