G31D (p.Gly31Asp) variant of NOTCH2 (Q04721)
G31D (p.Gly31Asp) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- Ensembl rs1654028127
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.13
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 3.3e-06)
- Structural context available