S67P (p.Ser67Pro) variant of RAI1 (Retinoic acid-induced protein 1)
S67P (p.Ser67Pro) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of RAI1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
S67P (p.Ser67Pro) variant details
- p.Ser67Pro
- rs2143001498
- ClinGen CA398544960
- ClinVar RCV001975537
- ClinVar RCV003401990
- Conflicting interpretations
- RAI1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0934
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 14.90
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (RAI1-related disorder; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available