V14D (p.Val14Asp) variant of CAV3 (Caveolin-3)
V14D (p.Val14Asp) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
V14D (p.Val14Asp) variant details
- p.Val14Asp
- gnomAD 3-8733917-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.76
- MetaSVM 0.35
- CADD 26.50
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available