A11S (p.Ala11Ser) variant of PIK3R2 (O00459)
A11S (p.Ala11Ser) in PIK3R2 (O00459) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- rs751392338
- ClinGen CA9306631
- ClinVar RCV006562814
- ExAC rs751392338
- Uncertain significance
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.31
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: MPPH Syndrome. (PMID 27854409)