D16G (p.Asp16Gly) variant of CAV3 (Caveolin-3)
D16G (p.Asp16Gly) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D16G (p.Asp16Gly) variant details
- p.Asp16Gly
- gnomAD 3-8733923-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.81
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.84
- MetaSVM 0.77
- CADD 26.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available