T65R (p.Thr65Arg) variant of MLC1 (Membrane protein MLC1)
T65R (p.Thr65Arg) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T65R (p.Thr65Arg) variant details
- p.Thr65Arg
- gnomAD 2-210298530-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.92
- MetaLR 0.29
- MetaSVM -0.50
- CADD 24.40
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available