R19Q (p.Arg19Gln) variant of PIK3R2 (O00459)
R19Q (p.Arg19Gln) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- rs754693011
- ClinGen CA9306638
- cosmic curated COSV53218
- ClinVar RCV006609081
- Uncertain significance
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.05
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.12
- 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)