G6R (p.Gly6Arg) variant of KCNA2 (P16389)
G6R (p.Gly6Arg) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autism spectrum disorder; Developmental and epileptic encephalopathy, 32. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- rs770338663
- ClinGen CA28809338
- NCI-TCGA Cosmic COSV6037
- cosmic curated COSV60371
- Conflicting interpretations
- Autism spectrum disorder; Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.43
- CADD 24.50
- PolyPhen-2 0.53
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Autism spectrum disorder; Developmental and epileptic encephalop)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay… (PMID 16301868)
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)