C101Y (p.Cys101Tyr) variant of NPHS2 (Podocin)
C101Y (p.Cys101Tyr) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
C101Y (p.Cys101Tyr) variant details
- p.Cys101Tyr
- rs777738678
- ClinGen CA343571059
- ClinVar RCV001356520
- ExAC rs777738678
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.49
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 0.41
- SIFT 0.00
- MutPred 0.77
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available