S82P (p.Ser82Pro) variant of USH1C (Harmonin)
S82P (p.Ser82Pro) in USH1C (Harmonin) 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 0.31 / 1. The record also includes experimental measurements and structural context.
S82P (p.Ser82Pro) variant details
- p.Ser82Pro
- rs2133919543
- ClinGen CA379797687
- ClinVar RCV001906979
- Ensembl rs2133919543
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.72
- MetaLR 0.07
- MetaSVM -1.10
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- USH1C PDZ domain domainome 1.0: score 0.159