S21W (p.Ser21Trp) variant of RAI1 (Retinoic acid-induced protein 1)
S21W (p.Ser21Trp) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S21W (p.Ser21Trp) variant details
- p.Ser21Trp
- TOPMed rs1226187697
- gnomAD rs1226187697
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.46
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available