G70S (p.Gly70Ser) variant of NOTCH3 (Q9UM47)
G70S (p.Gly70Ser) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G70S (p.Gly70Ser) variant details
- p.Gly70Ser
- gnomAD rs1379608507
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.82
- AlphaMissense 0.29
- MetaLR 0.95
- MetaSVM 1.09
- CADD 25.40
- PolyPhen-2 0.99
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available