A72S (p.Ala72Ser) variant of RAI1 (Retinoic acid-induced protein 1)
A72S (p.Ala72Ser) 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 0.25 / 1. The record also includes structural context.
A72S (p.Ala72Ser) variant details
- p.Ala72Ser
- rs370671656
- ClinGen CA398544988
- ClinVar RCV003318847
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.10
- MetaSVM -1.00
- PolyPhen-2 0.80
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available