V49M (p.Val49Met) variant of CAV3 (Caveolin-3)
V49M (p.Val49Met) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- gnomAD 3-8745556-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 24.40
- PolyPhen-2 0.72
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available