R63Q (p.Arg63Gln) variant of USH2A (Usherin)
R63Q (p.Arg63Gln) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R63Q (p.Arg63Gln) variant details
- p.Arg63Gln
- rs369806765
- ClinGen CA1396845
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10453
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.04
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00024)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Usher Syndrome Type II. (PMID 20301515)