M59V (p.Met59Val) variant of CACNA1A (O00555)
M59V (p.Met59Val) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 42. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
M59V (p.Met59Val) variant details
- p.Met59Val
- rs1599396496
- ClinGen CA404971045
- ClinVar RCV000790469
- Ensembl rs1599396496
- Uncertain significance
- Developmental and epileptic encephalopathy, 42
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- AlphaMissense 0.92
- MetaLR 0.86
- MetaSVM 0.88
- PolyPhen-2 0.07
- SIFT 0.02
- MutPred 0.43
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 42)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available