L43L (p.Leu43Leu) variant of SH2D1A (SH2 domain-containing protein 1A)
L43L (p.Leu43Leu) in SH2D1A (SH2 domain-containing protein 1A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- rs1569527113
- gnomAD X-124346771-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 8.98
- Population evidence available
- Structural context available
- Literature evidence available