N561D (p.Asn561Asp) variant of PIK3R2 (O00459)
N561D (p.Asn561Asp) 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 0.41 / 1. The record also includes published literature and structural context.
N561D (p.Asn561Asp) variant details
- p.Asn561Asp
- rs1057519801
- ClinGen CA16602622
- cosmic curated COSV55847
- ClinVar RCV002250624
- Likely pathogenic
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.98
- MetaLR 0.17
- MetaSVM -0.88
- PolyPhen-2 1.00
- SIFT 0.08
- EVE 0.68
- ClinVar: Likely pathogenic (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MPPH Syndrome. (PMID 27854409)