T7R (p.Thr7Arg) variant of CAV3 (Caveolin-3)
T7R (p.Thr7Arg) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T7R (p.Thr7Arg) variant details
- p.Thr7Arg
- ExAC rs781333474
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.39
- MetaSVM -0.69
- CADD 10.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available