I32T (p.Ile32Thr) variant of CAV3 (Caveolin-3)
I32T (p.Ile32Thr) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
I32T (p.Ile32Thr) variant details
- p.Ile32Thr
- rs2470043957
- ClinGen CA351661555
- ClinVar RCV003177588
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 0.74
- MetaLR 0.76
- MetaSVM 0.50
- CADD 24.60
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available