N52D (p.Asn52Asp) variant of RAI1 (Retinoic acid-induced protein 1)
N52D (p.Asn52Asp) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N52D (p.Asn52Asp) variant details
- p.Asn52Asp
- gnomAD rs2032081968
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available