G16G (p.Gly16Gly) variant of SH2D1A (SH2 domain-containing protein 1A)
G16G (p.Gly16Gly) in SH2D1A (SH2 domain-containing protein 1A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G16G (p.Gly16Gly) variant details
- p.Gly16Gly
- rs72610640
- gnomAD X-124346690-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.207
- CADD 6.79
- Most common in the HGDP:BASQUE population (allele frequency 0.034)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)