M51I (p.Met51Ile) variant of ADD1 (Alpha-adducin)
M51I (p.Met51Ile) in ADD1 (Alpha-adducin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
M51I (p.Met51Ile) variant details
- p.Met51Ile
- rs140325938
- cosmic curated COSV53271
- 1000Genomes rs140325938
- ESP rs140325938
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.17
- MetaSVM -0.87
- CADD 25.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available