F352L (p.Phe352Leu) variant of PIK3R2 (O00459)
F352L (p.Phe352Leu) in PIK3R2 (O00459) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
F352L (p.Phe352Leu) variant details
- p.Phe352Leu
- rs1568636630
- ClinGen CA404807802
- ClinVar RCV000767347
- Ensembl rs1568636630
- Likely pathogenic
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MPPH Syndrome. (PMID 27854409)