T16I (p.Thr16Ile) variant of ADD1 (Alpha-adducin)
T16I (p.Thr16Ile) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T16I (p.Thr16Ile) variant details
- p.Thr16Ile
- gnomAD 4-2875962-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.15
- ESM-1b 0.30
- AlphaMissense 0.22
- MetaLR 0.15
- MetaSVM -0.93
- CADD 26.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available