P77A (p.Pro77Ala) variant of MLC1 (Membrane protein MLC1)
P77A (p.Pro77Ala) 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 0.58 / 1. The record also includes population frequency data and structural context.
P77A (p.Pro77Ala) variant details
- p.Pro77Ala
- rs1259479522
- ClinGen CA412111605
- ClinVar RCV002575701
- TOPMed rs1259479522
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- ESM-1b 0.00
- AlphaMissense 0.57
- MetaLR 0.88
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available