E67K (p.Glu67Lys) variant of SH2D1A (SH2 domain-containing protein 1A)
E67K (p.Glu67Lys) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in XLP1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10075
- Uncertain significance
- in XLP1
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.79
- MetaLR 0.91
- MetaSVM 1.04
- CADD 24.40
- PolyPhen-2 0.23
- SIFT 0.05
- EBI: uncertain significance (in XLP1)
- UniProt: Uncertain significance (in XLP1)
- Population evidence available
- Structural context available