C88S (p.Cys88Ser) variant of USH2A (Usherin)
C88S (p.Cys88Ser) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
C88S (p.Cys88Ser) variant details
- p.Cys88Ser
- rs2102788720
- ClinGen CA344904343
- ClinVar RCV001929986
- Ensembl rs2102788720
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- AlphaMissense 0.87
- MetaLR 0.20
- MetaSVM -0.70
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available