G44R (p.Gly44Arg) variant of USH2A (Usherin)
G44R (p.Gly44Arg) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in USH2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- rs1381795491
- UniProt VAR 071996
- gnomAD rs1381795491
- Pathogenic
- in USH2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.40
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Pathogenic (in USH2A)
- UniProt: Pathogenic (in USH2A)
- Population evidence available
- Structural context available
- Cited in: Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. (PMID 22004887)
- Cited in: Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. (PMID 10729113)