A47V (p.Ala47Val) variant of RAI1 (Retinoic acid-induced protein 1)
A47V (p.Ala47Val) in RAI1 (Retinoic acid-induced protein 1) 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 and structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- gnomAD rs1385909374
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.30
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available