N31Y (p.Asn31Tyr) variant of CAV3 (Caveolin-3)
N31Y (p.Asn31Tyr) in CAV3 (Caveolin-3) 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 0.51 / 1. The record also includes structural context.
N31Y (p.Asn31Tyr) variant details
- p.Asn31Tyr
- rs2470043952
- ClinGen CA351661530
- ClinVar RCV002475089
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- ESM-1b 0.67
- AlphaMissense 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available