H73Q (p.His73Gln) variant of SH2D1A (SH2 domain-containing protein 1A)
H73Q (p.His73Gln) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of X-linked lymphoproliferative disease due to SH2D1A deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H73Q (p.His73Gln) variant details
- p.His73Gln
- rs954824608
- ClinGen CA414124395
- ClinVar RCV001237812
- ClinVar RCV002069308
- Conflicting interpretations
- X-linked lymphoproliferative disease due to SH2D1A deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.26
- MetaLR 0.63
- MetaSVM -0.14
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.95
- ClinVar: Conflicting classifications of pathogenicity (X-linked lymphoproliferative disease due to SH2D1A deficiency; n)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)