N31I (p.Asn31Ile) variant of CAV3 (Caveolin-3)
N31I (p.Asn31Ile) 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.
N31I (p.Asn31Ile) variant details
- p.Asn31Ile
- rs886042674
- ClinGen CA10604545
- ClinVar RCV000370059
- Ensembl rs886042674
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- ESM-1b 0.32
- AlphaMissense 0.25
- MetaLR 0.62
- MetaSVM 0.08
- PolyPhen-2 0.84
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available