R175Q (p.Arg175Gln) variant of KCNJ10 (P78508)
R175Q (p.Arg175Gln) 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; EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R175Q (p.Arg175Gln) variant details
- p.Arg175Gln
- rs397514673
- ClinGen CA130855
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10092
- Conflicting interpretations
- Inborn genetic diseases; not provided; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; EAST syndrome)
- EBI: Pathogenic (in SESAMES)
- UniProt: Pathogenic (in SESAMES)
- Population evidence available
- Structural context available
- Cited in: KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel… (PMID 20651251)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)