P14T (p.Pro14Thr) variant of ADD1 (Alpha-adducin)
P14T (p.Pro14Thr) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P14T (p.Pro14Thr) variant details
- p.Pro14Thr
- rs762826169
- gnomAD 4-2875955-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.19
- MetaSVM -0.80
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available