A32P (p.Ala32Pro) variant of MLC1 (Membrane protein MLC1)
A32P (p.Ala32Pro) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A32P (p.Ala32Pro) variant details
- p.Ala32Pro
- rs193115579
- ClinGen CA325498026
- ClinVar RCV000730243
- 1000Genomes rs193115579
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.27
- MetaSVM -0.71
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available