R34Q (p.Arg34Gln) variant of USH2A (Usherin)
R34Q (p.Arg34Gln) 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 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- rs2039690682
- ClinGen CA344905022
- NCI-TCGA Cosmic COSV5637
- cosmic curated COSV56373
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0742
- REVEL 0.05
- CADD 3.28
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Usher Syndrome Type II. (PMID 20301515)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)