R18T (p.Arg18Thr) variant of NPHS2 (Podocin)
R18T (p.Arg18Thr) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NPHS2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R18T (p.Arg18Thr) variant details
- p.Arg18Thr
- UniProt VAR 072135
- Pathogenic
- in NPHS2
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.38
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.11
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Population evidence available
- Structural context available
- Cited in: NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. (PMID 17899208)
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)