A72V (p.Ala72Val) variant of USH2A (Usherin)
A72V (p.Ala72Val) in USH2A (Usherin) is a missense change. The record also includes variant effect predictions and structural context.
A72V (p.Ala72Val) variant details
- p.Ala72Val
- TOPMed rs1320748695
- gnomAD rs1320748695
- Missense
- MetaLR 0.04
- MetaSVM -1.01
- SIFT 0.30
- Structural context available