N46S (p.Asn46Ser) variant of NOTCH2 (Q04721)
N46S (p.Asn46Ser) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Hajdu-Cheney syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N46S (p.Asn46Ser) variant details
- p.Asn46Ser
- rs61788900
- ClinGen CA1040934
- cosmic curated COSV56680
- ClinVar RCV000986403
- Benign
- not specified; not provided; Hajdu-Cheney syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.10
- CADD 23.70
- PolyPhen-2 0.68
- SIFT 0.09
- ClinVar: Benign (not specified; not provided; Hajdu-Cheney syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 9.3e-05)
- Structural context available