L31L (p.Leu31Leu) variant of SH2D1A (SH2 domain-containing protein 1A)
L31L (p.Leu31Leu) in SH2D1A (SH2 domain-containing protein 1A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L31L (p.Leu31Leu) variant details
- p.Leu31Leu
- rs2059993674
- gnomAD X-124346733-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 13.00
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available