V40L (p.Val40Leu) variant of SH2D1A (SH2 domain-containing protein 1A)
V40L (p.Val40Leu) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
V40L (p.Val40Leu) variant details
- p.Val40Leu
- ExAC rs199639961
- TOPMed rs199639961
- gnomAD rs199639961
- Uncertain significance
- Missense
- MetaLR 0.47
- MetaSVM -0.19
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available