K18K (p.Lys18Lys) variant of SH2D1A (SH2 domain-containing protein 1A)
K18K (p.Lys18Lys) in SH2D1A (SH2 domain-containing protein 1A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K18K (p.Lys18Lys) variant details
- p.Lys18Lys
- rs778633764
- gnomAD X-124346696-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 10.90
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available