P20L (p.Pro20Leu) variant of NPHS2 (Podocin)
P20L (p.Pro20Leu) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs74315344
- ClinGen CA117451
- ClinVar RCV000005696
- ClinVar RCV000588524
- Conflicting interpretations
- not specified; not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.61
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Finnish congenital nephrotic syndro)
- EBI: Benign (in dbSNP:rs74315344)
- UniProt: Benign (in dbSNP:rs74315344)
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.053)
- Structural context available
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)
- Cited in: Broadening the spectrum of diseases related to podocin mutations. (PMID 12707396)