G12R (p.Gly12Arg) variant of POLD1 (P28340)
G12R (p.Gly12Arg) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mandibular hypoplasia-deafness-progeroid syndrome; Immunodeficiency 120; Colorec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- rs772197667
- ClinGen CA9595588
- cosmic curated COSV70955
- ClinVar RCV000472030
- Conflicting interpretations
- Mandibular hypoplasia-deafness-progeroid syndrome; Immunodeficiency 120; Colorec
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.09
- CADD 22.10
- PolyPhen-2 0.09
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Mandibular hypoplasia-deafness-progeroid syndrome; Immunodeficie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HEZHEN population (allele frequency 0.19)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)