V56A (p.Val56Ala) variant of SH2D1A (SH2 domain-containing protein 1A)
V56A (p.Val56Ala) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SH2D1A-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes structural context.
V56A (p.Val56Ala) variant details
- p.Val56Ala
- rs2147531344
- ClinGen CA414123538
- ClinVar RCV002263564
- ClinVar RCV003403759
- Uncertain significance
- SH2D1A-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- AlphaMissense 0.21
- ClinVar: Uncertain significance (SH2D1A-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available