C40W (p.Cys40Trp) variant of RAI1 (Retinoic acid-induced protein 1)
C40W (p.Cys40Trp) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
C40W (p.Cys40Trp) variant details
- p.Cys40Trp
- gnomAD 17-17793068-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.86
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available