Y83C (p.Tyr83Cys) variant of NPHS1 (Nephrin)
Y83C (p.Tyr83Cys) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
Y83C (p.Tyr83Cys) variant details
- p.Tyr83Cys
- gnomAD rs1425382291
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.49
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available