G70D (p.Gly70Asp) variant of NOTCH3 (Q9UM47)
G70D (p.Gly70Asp) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G70D (p.Gly70Asp) variant details
- p.Gly70Asp
- gnomAD rs1174452738
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.89
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available