T65* (p.Thr65Ter) variant of MLC1 (Membrane protein MLC1)
T65* (p.Thr65Ter) in MLC1 (Membrane protein MLC1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
T65* (p.Thr65Ter) variant details
- p.Thr65Ter
- rs1453679401
- gnomAD 2-210298527-CCTGT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available