C3R (p.Cys3Arg) variant of USH2A (Usherin)
C3R (p.Cys3Arg) in USH2A (Usherin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
C3R (p.Cys3Arg) variant details
- p.Cys3Arg
- rs1007387309
- TOPMed rs1007387309
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.06
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available