N29Y (p.Asn29Tyr) variant of RAI1 (Retinoic acid-induced protein 1)
N29Y (p.Asn29Tyr) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N29Y (p.Asn29Tyr) variant details
- p.Asn29Tyr
- ExAC rs774955084
- TOPMed rs774955084
- gnomAD rs774955084
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.43
- CADD 25.00
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available