K376E (p.Lys376Glu) variant of PIK3R2 (O00459)
K376E (p.Lys376Glu) in PIK3R2 (O00459) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PIK3R2-related disorder; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
K376E (p.Lys376Glu) variant details
- p.Lys376Glu
- rs886041591
- ClinGen CA10603527
- NCI-TCGA Cosmic COSV5584
- cosmic curated COSV55849
- Pathogenic
- PIK3R2-related disorder; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (PIK3R2-related disorder; Megalencephaly-polymicrogyria-polydacty)
- EBI: Pathogenic (in MPPH1)
- UniProt: Pathogenic (in MPPH1)
- Structural context available
- Cited in: Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian… (PMID 26520804)
- Cited in: MPPH Syndrome. (PMID 27854409)