R6P (p.Arg6Pro) variant of ADD1 (Alpha-adducin)
R6P (p.Arg6Pro) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- rs1731209577
- gnomAD 4-2875932-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.07
- MetaSVM -1.04
- CADD 21.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available