L401P (p.Leu401Pro) variant of PIK3R2 (O00459)
L401P (p.Leu401Pro) 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 0.91 / 1. The record also includes published literature and structural context.
L401P (p.Leu401Pro) variant details
- p.Leu401Pro
- rs587777624
- ClinGen CA170556
- ClinVar RCV000133505
- UniProt VAR 075683
- Pathogenic
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Pathogenic (in MPPH1)
- UniProt: Pathogenic (in MPPH1)
- Structural context available
- Cited in: Megalencephaly and polymicrogyria with polydactyly syndrome. (PMID 17675034)
- Cited in: AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. (PMID 23745724)