P65L (p.Pro65Leu) variant of ADD1 (Alpha-adducin)
P65L (p.Pro65Leu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P65L (p.Pro65Leu) variant details
- p.Pro65Leu
- gnomAD 4-2876109-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.23
- MetaSVM -0.62
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available