H73H (p.His73His) variant of SH2D1A (SH2 domain-containing protein 1A)
H73H (p.His73His) in SH2D1A (SH2 domain-containing protein 1A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H73H (p.His73His) variant details
- p.His73His
- rs954824608
- gnomAD X-124370193-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 8.69
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available