R5Q (p.Arg5Gln) variant of POLD1 (P28340)
R5Q (p.Arg5Gln) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R5Q (p.Arg5Gln) variant details
- p.Arg5Gln
- rs748471297
- ClinGen CA9595581
- NCI-TCGA Cosmic COSV1014
- cosmic curated COSV10148
- Conflicting interpretations
- Mandibular hypoplasia-deafness-progeroid syndrome; Immunodeficiency 120; Colorec
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.09
- CADD 26.60
- PolyPhen-2 0.19
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Mandibular hypoplasia-deafness-progeroid syndrome; Immunodeficie)
- EBI: Likely benign (in dbSNP:rs9282830)
- UniProt: Likely benign (in dbSNP:rs9282830)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00047)
- 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)