P20L (p.Pro20Leu) variant of PIK3R2 (O00459)
P20L (p.Pro20Leu) 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; Inbo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs929809973
- ClinGen CA306163901
- cosmic curated COSV53227
- ClinVar RCV004651567
- Uncertain significance
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; Inbo
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.13
- CADD 24.10
- PolyPhen-2 0.11
- 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: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)