G385R (p.Gly385Arg) variant of PIK3R2 (O00459)
G385R (p.Gly385Arg) in PIK3R2 (O00459) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G385R (p.Gly385Arg) variant details
- p.Gly385Arg
- rs2043767578
- ClinGen CA404809081
- ClinVar RCV001289463
- Ensembl rs2043767578
- Pathogenic
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.33
- CADD 27.80
- ClinVar: Pathogenic (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: MPPH Syndrome. (PMID 27854409)