G42D (p.Gly42Asp) variant of NOTCH1 (P46531)
G42D (p.Gly42Asp) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Adams-Oliver syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G42D (p.Gly42Asp) variant details
- p.Gly42Asp
- ExAC rs754666783
- gnomAD rs754666783
- Benign
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 24.50
- PolyPhen-2 0.95
- SIFT 0.12
- ClinVar: Benign (Adams-Oliver syndrome 5)
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00017)
- Structural context available