Q35K (p.Gln35Lys) variant of USH1C (Harmonin)
Q35K (p.Gln35Lys) 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 0.30 / 1. The record also includes experimental measurements and structural context.
Q35K (p.Gln35Lys) variant details
- p.Gln35Lys
- rs1477925627
- ClinGen CA379800286
- cosmic curated COSV50028
- ClinVar RCV002027706
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- AlphaMissense 0.18
- MetaLR 0.06
- MetaSVM -1.09
- PolyPhen-2 0.06
- SIFT 0.11
- MutPred 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.895