P10Q (p.Pro10Gln) variant of KCNH2 (hERG)
P10Q (p.Pro10Gln) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P10Q (p.Pro10Gln) variant details
- p.Pro10Gln
- rs1383782501
- ClinGen CA369866738
- NCI-TCGA Cosmic COSV1000
- ClinVar RCV002051215
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.83
- CADD 25.90
- PolyPhen-2 0.93
- SIFT 0.04
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 88.6
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)