G44E (p.Gly44Glu) variant of USH2A (Usherin)
G44E (p.Gly44Glu) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in USH2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G44E (p.Gly44Glu) variant details
- p.Gly44Glu
- rs2039690182
- ClinGen CA344904907
- cosmic curated COSV56452
- ClinVar RCV001073479
- Uncertain significance
- in USH2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.25
- CADD 23.20
- PolyPhen-2 0.94
- SIFT 0.00
- EBI: Variant of uncertain significance (in USH2A)
- UniProt: Uncertain significance (in USH2A)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Usher Syndrome Type II. (PMID 20301515)