A50V (p.Ala50Val) variant of NOTCH3 (Q9UM47)
A50V (p.Ala50Val) in NOTCH3 (Q9UM47) is a missense change. The record also includes variant effect predictions and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- Ensembl rs2145451259
- Missense
- MetaLR 0.48
- MetaSVM -0.57
- SIFT 0.35
- Structural context available