A29T (p.Ala29Thr) variant of NPHS2 (Podocin)
A29T (p.Ala29Thr) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- rs561887984
- ClinGen CA1267332
- ClinVar RCV000668713
- UniProt VAR 071212
- Uncertain significance
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.56
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (Nephrotic syndrome, type 2)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant… (PMID 15253708)
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)