P89L (p.Pro89Leu) variant of NPHS2 (Podocin)
P89L (p.Pro89Leu) in NPHS2 (Podocin) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P89L (p.Pro89Leu) variant details
- p.Pro89Leu
- rs2526376552
- ClinGen CA343552497
- ClinVar RCV004491025
- ClinVar RCV005610672
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.28
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance (in NPHS2)
- UniProt: Uncertain significance (in NPHS2)
- 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)