V56A (p.Val56Ala) variant of MLC1 (Membrane protein MLC1)
V56A (p.Val56Ala) 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 0.35 / 1. The record also includes structural context.
V56A (p.Val56Ala) variant details
- p.Val56Ala
- rs2062237937
- ClinGen CA412112248
- ClinVar RCV002725408
- Ensembl rs2062237937
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.62
- MetaSVM -0.04
- PolyPhen-2 0.01
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available