H8H (p.His8His) variant of SH2D1A (SH2 domain-containing protein 1A)
H8H (p.His8His) in SH2D1A (SH2 domain-containing protein 1A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H8H (p.His8His) variant details
- p.His8His
- rs915605791
- gnomAD X-124346666-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0859
- CADD 1.13
- Most common in the REMAINING population (allele frequency 4.3e-05)
- Structural context available
- Literature evidence available