R19W (p.Arg19Trp) variant of PIK3R2 (O00459)
R19W (p.Arg19Trp) in PIK3R2 (O00459) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R19W (p.Arg19Trp) variant details
- p.Arg19Trp
- rs779519249
- ClinGen CA9306637
- ClinVar RCV006611189
- ExAC rs779519249
- Likely benign
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.12
- CADD 27.80
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Likely benign (Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalu)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: MPPH Syndrome. (PMID 27854409)