I36T (p.Ile36Thr) variant of CAV3 (Caveolin-3)
I36T (p.Ile36Thr) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
I36T (p.Ile36Thr) variant details
- p.Ile36Thr
- gnomAD 3-8733983-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.60
- MetaSVM 0.15
- CADD 23.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available