A69A (p.Ala69Ala) variant of SH2D1A (SH2 domain-containing protein 1A)
A69A (p.Ala69Ala) in SH2D1A (SH2 domain-containing protein 1A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A69A (p.Ala69Ala) variant details
- p.Ala69Ala
- rs1056354956
- gnomAD X-124370181-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 9.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available