P65P (p.Pro65Pro) variant of ADD1 (Alpha-adducin)
P65P (p.Pro65Pro) in ADD1 (Alpha-adducin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P65P (p.Pro65Pro) variant details
- p.Pro65Pro
- gnomAD 4-2876110-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.73
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available