P271L (p.Pro271Leu) variant of NPHS2 (Podocin)
P271L (p.Pro271Leu) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
P271L (p.Pro271Leu) variant details
- p.Pro271Leu
- rs869312747
- ClinGen CA354121
- ClinVar RCV000210051
- Ensembl rs869312747
- Likely pathogenic
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.53
- MetaLR 0.95
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Nephrotic syndrome, type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)