M80V (p.Met80Val) variant of GABRB3 (P28472)
M80V (p.Met80Val) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 43. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
M80V (p.Met80Val) variant details
- p.Met80Val
- 1000Genomes rs72708067
- gnomAD rs72708067
- Pathogenic
- Developmental and epileptic encephalopathy, 43
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.81
- AlphaMissense 0.99
- MetaLR 0.69
- MetaSVM 0.63
- CADD 25.90
- PolyPhen-2 0.95
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 43)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available