R18Q (p.Arg18Gln) variant of KCNJ10 (P78508)
R18Q (p.Arg18Gln) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
R18Q (p.Arg18Gln) variant details
- p.Arg18Gln
- rs115466046
- ClinGen CA288914
- cosmic curated COSV99058
- ClinVar RCV000117319
- Conflicting interpretations
- Inborn genetic diseases; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 18.70
- PolyPhen-2 0.06
- SIFT 0.37
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; not specified)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)
- Cited in: Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a… (PMID 34131312)