L39Q (p.Leu39Gln) variant of HCN1 (O60741)
L39Q (p.Leu39Gln) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L39Q (p.Leu39Gln) variant details
- p.Leu39Gln
- rs2478644839
- ClinGen CA359706713
- ClinVar RCV003135527
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.30
- CADD 16.80
- PolyPhen-2 0.35
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available