A72V (p.Ala72Val) variant of RAI1 (Retinoic acid-induced protein 1)
A72V (p.Ala72Val) 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 Inborn genetic diseases; RAI1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A72V (p.Ala72Val) variant details
- p.Ala72Val
- ExAC rs772784544
- TOPMed rs772784544
- gnomAD rs772784544
- Conflicting interpretations
- Inborn genetic diseases; RAI1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 7.37
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; RAI1-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available