D33G (p.Asp33Gly) variant of SH2D1A (SH2 domain-containing protein 1A)
D33G (p.Asp33Gly) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
D33G (p.Asp33Gly) variant details
- p.Asp33Gly
- rs2059993731
- ClinGen CA414122374
- ClinVar RCV001091712
- Ensembl rs2059993731
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- AlphaMissense 0.93
- MetaLR 0.80
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.58
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in XLP1)
- UniProt: Uncertain significance (in XLP1)
- Structural context available