R7Q (p.Arg7Gln) variant of USH1C (Harmonin)
R7Q (p.Arg7Gln) 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 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- rs777396814
- ClinGen CA5905294
- ClinVar RCV002714927
- ExAC rs777396814
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.06
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score 0.0255