M51V (p.Met51Val) variant of GLA (Alpha-galactosidase A)
M51V (p.Met51Val) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
M51V (p.Met51Val) variant details
- p.Met51Val
- rs1569306069
- ClinGen CA413936946
- NCI-TCGA Cosmic COSV5450
- ClinVar RCV003324310
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- AlphaMissense 0.08
- MetaLR 0.97
- MetaSVM 1.36
- PolyPhen-2 0.00
- SIFT 0.14
- EVE 0.13
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available