M51T (p.Met51Thr) variant of ADD1 (Alpha-adducin)
M51T (p.Met51Thr) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
M51T (p.Met51Thr) variant details
- p.Met51Thr
- gnomAD 4-2876067-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.17
- MetaSVM -0.85
- CADD 26.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available