T6R (p.Thr6Arg) variant of NPHS1 (Nephrin)
T6R (p.Thr6Arg) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Focal segmental glomerulosclerosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
T6R (p.Thr6Arg) variant details
- p.Thr6Arg
- rs150180768
- ClinGen CA307791360
- ClinVar RCV002294639
- 1000Genomes rs150180768
- Uncertain significance
- Focal segmental glomerulosclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.0787
- REVEL 0.09
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.60
- ClinVar: Uncertain significance (Focal segmental glomerulosclerosis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available