D41N (p.Asp41Asn) variant of RAI1 (Retinoic acid-induced protein 1)
D41N (p.Asp41Asn) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- rs749428152
- ClinGen CA8418048
- ClinVar RCV003669087
- ExAC rs749428152
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.30
- CADD 24.40
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available