V75M (p.Val75Met) variant of MLC1 (Membrane protein MLC1)
V75M (p.Val75Met) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V75M (p.Val75Met) variant details
- p.Val75Met
- rs148848827
- ClinGen CA10303648
- ClinVar RCV002985446
- ESP rs148848827
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- ESM-1b 0.00
- AlphaMissense 0.45
- MetaLR 0.88
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available