E60K (p.Glu60Lys) variant of SH2D1A (SH2 domain-containing protein 1A)
E60K (p.Glu60Lys) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- gnomAD X-124365801-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.36
- MetaLR 0.83
- MetaSVM 0.57
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.81
- Population evidence available
- Literature evidence available