M1V (p.Met1Val) variant of ADD1 (Alpha-adducin)
M1V (p.Met1Val) in ADD1 (Alpha-adducin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Esophageal atresia/tracheoesophageal fistula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1731205978
- ClinGen CA356051432
- ClinVar RCV001172284
- Likely pathogenic
- Esophageal atresia/tracheoesophageal fistula
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.23
- MetaSVM -0.61
- CADD 23.90
- ClinVar: Likely pathogenic (Esophageal atresia/tracheoesophageal fistula)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available