P19S (p.Pro19Ser) variant of ADD1 (Alpha-adducin)
P19S (p.Pro19Ser) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- gnomAD 4-2875970-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.36
- ESM-1b 0.87
- AlphaMissense 0.26
- MetaLR 0.21
- MetaSVM -0.69
- CADD 26.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available