K59T (p.Lys59Thr) variant of CAV3 (Caveolin-3)
K59T (p.Lys59Thr) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
K59T (p.Lys59Thr) variant details
- p.Lys59Thr
- Ensembl rs1575477552
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.69
- CADD 23.90
- PolyPhen-2 0.83
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available