D43G (p.Asp43Gly) variant of CAV3 (Caveolin-3)
D43G (p.Asp43Gly) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rippling muscle disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
D43G (p.Asp43Gly) variant details
- p.Asp43Gly
- rs1559654264
- ClinGen CA351663141
- ClinVar RCV003990627
- Likely pathogenic
- Rippling muscle disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Rippling muscle disease 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available