S3A (p.Ser3Ala) variant of RAI1 (Retinoic acid-induced protein 1)
S3A (p.Ser3Ala) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
S3A (p.Ser3Ala) variant details
- p.Ser3Ala
- rs2032075366
- ClinGen CA398544549
- cosmic curated COSV11384
- ClinVar RCV003560545
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- ESM-1b 0.00
- AlphaMissense 0.66
- MetaLR 0.61
- MetaSVM 0.32
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available