R7S (p.Arg7Ser) variant of RAI1 (Retinoic acid-induced protein 1)
R7S (p.Arg7Ser) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- gnomAD 17-17792969-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.97
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available