R649W (p.Arg649Trp) variant of PIK3R1 (P27986)
R649W (p.Arg649Trp) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PIK3R1-related immunodeficiency and SHORT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
R649W (p.Arg649Trp) variant details
- p.Arg649Trp
- rs397515453
- ClinGen CA344799
- NCI-TCGA Cosmic COSV5713
- cosmic curated COSV57134
- Pathogenic
- PIK3R1-related immunodeficiency and SHORT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (PIK3R1-related immunodeficiency and SHORT syndrome)
- EBI: Pathogenic (in SHORTS)
- UniProt: Pathogenic (in SHORTS)
- Cited in: SHORT syndrome: a case with high hyperopia and astigmatism. (PMID 11135494)
- Cited in: SHORT syndrome. (PMID 12514365)