A66P (p.Ala66Pro) variant of SH2D1A (SH2 domain-containing protein 1A)
A66P (p.Ala66Pro) 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 X-linked lymphoproliferative disease due to SH2D1A deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A66P (p.Ala66Pro) variant details
- p.Ala66Pro
- rs770028051
- ClinGen CA10509272
- ClinVar RCV003066640
- ExAC rs770028051
- Uncertain significance
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.88
- MetaLR 0.97
- MetaSVM 1.10
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)