L12V (p.Leu12Val) variant of PIK3R2 (O00459)
L12V (p.Leu12Val) in PIK3R2 (O00459) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- rs1308748759
- ClinGen CA404799912
- cosmic curated COSV53221
- ClinVar RCV003277211
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.06
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- 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)