R631Q (p.Arg631Gln) variant of PIK3R1 (P27986)
R631Q (p.Arg631Gln) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of PIK3R1-related immunodeficiency and SHORT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature.
R631Q (p.Arg631Gln) variant details
- p.Arg631Gln
- rs515726149
- ClinGen CA347796
- cosmic curated COSV10876
- ClinVar RCV000202555
- Likely pathogenic
- PIK3R1-related immunodeficiency and SHORT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (PIK3R1-related immunodeficiency and SHORT syndrome)
- UniProt: Likely pathogenic
- Cited in: PIK3R1-Related SHORT Syndrome. (PMID 24830046)