A21V (p.Ala21Val) variant of NOTCH2 (Q04721)
A21V (p.Ala21Val) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- ExAC rs782179651
- TOPMed rs782179651
- gnomAD rs782179651
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.07
- CADD 12.60
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00046)
- Structural context available