T65A (p.Thr65Ala) variant of MLC1 (Membrane protein MLC1)
T65A (p.Thr65Ala) in MLC1 (Membrane protein MLC1) 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.
T65A (p.Thr65Ala) variant details
- p.Thr65Ala
- gnomAD 2-210298513-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.15
- MetaSVM -0.89
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available