K18R (p.Lys18Arg) variant of SH2D1A (SH2 domain-containing protein 1A)
K18R (p.Lys18Arg) 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 not provided; X-linked lymphoproliferative disease due to SH2D1A deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K18R (p.Lys18Arg) variant details
- p.Lys18Arg
- rs1303880423
- ClinGen CA414122278
- ClinVar RCV000727009
- ClinVar RCV003509560
- Conflicting interpretations
- not provided; X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.20
- MetaLR 0.38
- MetaSVM -0.65
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked lymphoproliferative disease due to SH2D1A)
- 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)