R75R (p.Arg75Arg) variant of SH2D1A (SH2 domain-containing protein 1A)
R75R (p.Arg75Arg) in SH2D1A (SH2 domain-containing protein 1A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R75R (p.Arg75Arg) variant details
- p.Arg75Arg
- rs371553659
- gnomAD X-124370199-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 11.60
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Literature evidence available