R31Q (p.Arg31Gln) variant of USH1C (Harmonin)
R31Q (p.Arg31Gln) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Usher syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- rs776511246
- ClinGen CA5905185
- NCI-TCGA Cosmic COSV5001
- cosmic curated COSV50018
- Conflicting interpretations
- not provided; Usher syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.30
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Usher syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.0357
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)