T16N (p.Thr16Asn) variant of ADD1 (Alpha-adducin)
T16N (p.Thr16Asn) 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.
T16N (p.Thr16Asn) variant details
- p.Thr16Asn
- rs1009943002
- gnomAD 4-2875962-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.15
- MetaSVM -0.94
- CADD 25.30
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available