Y109C (p.Tyr109Cys) variant of NPHS1 (Nephrin)
Y109C (p.Tyr109Cys) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y109C (p.Tyr109Cys) variant details
- p.Tyr109Cys
- Ensembl rs993777150
- Uncertain significance
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.78
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Finnish congenital nephrotic syndrome)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available