D106Y (p.Asp106Tyr) variant of NPHS1 (Nephrin)
D106Y (p.Asp106Tyr) 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.
D106Y (p.Asp106Tyr) variant details
- p.Asp106Tyr
- ExAC rs759088529
- TOPMed rs759088529
- gnomAD rs759088529
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.46
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available