L931R (p.Leu931Arg) variant of POLG (DNA polymerase subunit gamma-1)
L931R (p.Leu931Arg) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
L931R (p.Leu931Arg) variant details
- p.Leu931Arg
- rs1484810169
- ClinGen CA393753097
- ClinVar RCV000855755
- TOPMed rs1484810169
- Likely pathogenic
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)