D30G (p.Asp30Gly) variant of NOTCH2 (Q04721)
D30G (p.Asp30Gly) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D30G (p.Asp30Gly) variant details
- p.Asp30Gly
- gnomAD rs1553210725
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.19
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the South Asian population (allele frequency 0.00051)
- Structural context available