G52A (p.Gly52Ala) variant of NOTCH3 (Q9UM47)
G52A (p.Gly52Ala) in NOTCH3 (Q9UM47) is a missense change. The record also includes variant effect predictions and structural context.
G52A (p.Gly52Ala) variant details
- p.Gly52Ala
- TOPMed rs1389999486
- gnomAD rs1389999486
- Missense
- MetaLR 0.95
- MetaSVM 1.03
- SIFT 0.05
- Structural context available