D49Y (p.Asp49Tyr) variant of RAI1 (Retinoic acid-induced protein 1)
D49Y (p.Asp49Tyr) 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 0.40 / 1. The record also includes population frequency data and structural context.
D49Y (p.Asp49Tyr) variant details
- p.Asp49Tyr
- rs370209009
- ClinGen CA8418057
- ClinVar RCV002301528
- ClinVar RCV004744341
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.12
- ESM-1b 0.39
- AlphaMissense 0.69
- CADD 26.70
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available