P48A (p.Pro48Ala) variant of CAV3 (Caveolin-3)
P48A (p.Pro48Ala) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
P48A (p.Pro48Ala) variant details
- p.Pro48Ala
- Ensembl rs996212719
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available