P65S (p.Pro65Ser) variant of ADD1 (Alpha-adducin)
P65S (p.Pro65Ser) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P65S (p.Pro65Ser) variant details
- p.Pro65Ser
- gnomAD 4-2876108-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.22
- MetaSVM -0.63
- CADD 28.20
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available