G1331R (p.Gly1331Arg) variant of TNXB (Tenascin-X)
G1331R (p.Gly1331Arg) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vesicoureteral reflux 8. 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.
G1331R (p.Gly1331Arg) variant details
- p.Gly1331Arg
- rs587777684
- gnomAD rs587777684
- ClinGen CA170658
- ClinVar RCV000133611
- Pathogenic
- Vesicoureteral reflux 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Vesicoureteral reflux 8)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Cited in: TNXB mutations can cause vesicoureteral reflux. (PMID 23620400)