C88F (p.Cys88Phe) variant of USH2A (Usherin)
C88F (p.Cys88Phe) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
C88F (p.Cys88Phe) variant details
- p.Cys88Phe
- rs2039687321
- ClinGen CA344904338
- NCI-TCGA Cosmic COSV5638
- cosmic curated COSV56385
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.74
- MetaLR 0.21
- MetaSVM -0.68
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.77
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available