P48P (p.Pro48Pro) variant of CAV3 (Caveolin-3)
P48P (p.Pro48Pro) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P48P (p.Pro48Pro) variant details
- p.Pro48Pro
- rs149287333
- gnomAD 3-8745555-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0806
- CADD 0.06
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available
- Literature evidence available