R74H (p.Arg74His) variant of KCNQ3 (O43525)
R74H (p.Arg74His) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R74H (p.Arg74His) variant details
- p.Arg74His
- rs1163071564
- ClinGen CA372292656
- ClinVar RCV001236358
- TOPMed rs1163071564
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.41
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available