T65N (p.Thr65Asn) variant of MLC1 (Membrane protein MLC1)
T65N (p.Thr65Asn) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T65N (p.Thr65Asn) variant details
- p.Thr65Asn
- gnomAD 2-210298512-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.70
- MetaLR 0.29
- MetaSVM -0.61
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available