G59E (p.Gly59Glu) variant of USH2A (Usherin)
G59E (p.Gly59Glu) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G59E (p.Gly59Glu) variant details
- p.Gly59Glu
- rs1378799607
- ClinGen CA344904669
- ClinVar RCV001268038
- ClinVar RCV003462845
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.80
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)