A11V (p.Ala11Val) variant of NOTCH2 (Q04721)
A11V (p.Ala11Val) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar 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 0.25 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- ExAC rs782442735
- TOPMed rs782442735
- gnomAD rs782442735
- Uncertain significance
- Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.17
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney s)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available