G672R (p.Gly672Arg) variant of SPG7 (Q9UQ90)
G672R (p.Gly672Arg) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pancreatitis; Hereditary spastic paraplegia 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and published literature.
G672R (p.Gly672Arg) variant details
- p.Gly672Arg
- rs369503365
- ClinGen CA8244506
- cosmic curated COSV51947
- ClinVar RCV000640984
- Uncertain significance
- Hereditary pancreatitis; Hereditary spastic paraplegia 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Cited in: PRSS1-Related Hereditary Pancreatitis. (PMID 22379635)
- Cited in: Pancreatitis Overview. (PMID 24624459)