A308V (p.Ala308Val) variant of NPHS2 (Podocin)
A308V (p.Ala308Val) 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 0.81 / 1. The record also includes published literature and structural context.
A308V (p.Ala308Val) variant details
- p.Ala308Val
- rs1673255837
- ClinGen CA343565785
- ClinVar RCV001328159
- ClinVar RCV002471075
- Likely pathogenic
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.64
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- 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)