P29T (p.Pro29Thr) variant of CAV3 (Caveolin-3)
P29T (p.Pro29Thr) in CAV3 (Caveolin-3) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
P29T (p.Pro29Thr) variant details
- p.Pro29Thr
- rs116840785
- ClinGen CA215157
- ClinVar RCV000024396
- Ensembl rs116840785
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.95
- ESM-1b 0.00
- AlphaMissense 0.88
- MetaLR 0.90
- MetaSVM 1.02
- CADD 26.10
- ClinVar: not provided (not provided)
- EBI: Variant of uncertain significance (in HYPCK)
- UniProt: Uncertain significance (in HYPCK)
- Population evidence available
- Structural context available