V127I (p.Val127Ile) variant of NPHS2 (Podocin)
V127I (p.Val127Ile) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V127I (p.Val127Ile) variant details
- p.Val127Ile
- rs1572282458
- ClinGen CA343569974
- ClinVar RCV000995819
- Ensembl rs1572282458
- Likely pathogenic
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.45
- CADD 22.50
- PolyPhen-2 0.33
- SIFT 0.70
- ClinVar: Likely pathogenic (Nephrotic syndrome, type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)