R91Q (p.Arg91Gln) variant of NOTCH2 (Q04721)
R91Q (p.Arg91Gln) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R91Q (p.Arg91Gln) variant details
- p.Arg91Gln
- 1000Genomes rs143195893
- ESP rs143195893
- ExAC rs143195893
- TOPMed rs143195893
- Uncertain significance
- Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.10
- CADD 21.60
- PolyPhen-2 0.93
- SIFT 0.53
- ClinVar: Uncertain significance (Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney s)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available