P4S (p.Pro4Ser) variant of PIK3R2 (O00459)
P4S (p.Pro4Ser) in PIK3R2 (O00459) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- rs142933317
- ClinGen CA9306628
- cosmic curated COSV53227
- ClinVar RCV001817052
- Benign
- not specified; Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.01
- CADD 6.57
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Benign (not specified; Megalencephaly-polymicrogyria-postaxial polydacty)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: MPPH Syndrome. (PMID 27854409)