C19W (p.Cys19Trp) variant of NOTCH2 (Q04721)
C19W (p.Cys19Trp) 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 0.21 / 1. The record also includes population frequency data and structural context.
C19W (p.Cys19Trp) variant details
- p.Cys19Trp
- rs11810554
- ClinGen CA1041044
- ClinVar RCV000986405
- ClinVar RCV001700685
- Benign
- not specified; not provided; Hajdu-Cheney syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.10
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Benign (not specified; not provided; Hajdu-Cheney syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00043)
- Structural context available