D49N (p.Asp49Asn) variant of RAI1 (Retinoic acid-induced protein 1)
D49N (p.Asp49Asn) 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 0.31 / 1. The record also includes population frequency data and structural context.
D49N (p.Asp49Asn) variant details
- p.Asp49Asn
- rs370209009
- ClinGen CA8418058
- ClinVar RCV003814704
- ESP rs370209009
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 24.10
- PolyPhen-2 0.15
- SIFT 0.03
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available