T65I (p.Thr65Ile) variant of MLC1 (Membrane protein MLC1)
T65I (p.Thr65Ile) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T65I (p.Thr65Ile) variant details
- p.Thr65Ile
- rs1690216003
- gnomAD 2-210298530-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.39
- MetaLR 0.40
- MetaSVM -0.25
- CADD 25.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available