A75T (p.Ala75Thr) variant of RAI1 (Retinoic acid-induced protein 1)
A75T (p.Ala75Thr) 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 not specified; not provided; RAI1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A75T (p.Ala75Thr) variant details
- p.Ala75Thr
- rs566875015
- ClinGen CA288366892
- NCI-TCGA Cosmic COSV5539
- cosmic curated COSV55395
- Conflicting interpretations
- not specified; not provided; RAI1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.0749
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 6.20
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; RAI1-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available