R55K (p.Arg55Lys) variant of SH2D1A (SH2 domain-containing protein 1A)
R55K (p.Arg55Lys) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R55K (p.Arg55Lys) variant details
- p.Arg55Lys
- gnomAD X-124365797-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 10.30
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.9e-05)
- Structural context available
- Literature evidence available