A21S (p.Ala21Ser) variant of NOTCH2 (Q04721)
A21S (p.Ala21Ser) in NOTCH2 (Q04721) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- 1000Genomes rs2603926
- ExAC rs2603926
- TOPMed rs2603926
- gnomAD rs2603926
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.05
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.78
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00046)
- Structural context available