N52S (p.Asn52Ser) variant of RAI1 (Retinoic acid-induced protein 1)
N52S (p.Asn52Ser) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
N52S (p.Asn52Ser) variant details
- p.Asn52Ser
- TOPMed rs1361997890
- gnomAD rs1361997890
- Missense
- Variant Prioritization Score for Impact Estimate 0.0887
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available