T7K (p.Thr7Lys) variant of CAV3 (Caveolin-3)
T7K (p.Thr7Lys) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T7K (p.Thr7Lys) variant details
- p.Thr7Lys
- gnomAD 3-8733896-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.37
- MetaSVM -0.71
- CADD 8.43
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available