R10T (p.Arg10Thr) variant of NPHS2 (Podocin)
R10T (p.Arg10Thr) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R10T (p.Arg10Thr) variant details
- p.Arg10Thr
- rs920479356
- ClinGen CA33654147
- ClinVar RCV003226802
- ClinVar RCV005012816
- Uncertain significance
- Nephrotic syndrome, type 2; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.71
- CADD 23.20
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Nephrotic syndrome, type 2; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)