P58L (p.Pro58Leu) variant of HCN4 (Q9Y3Q4)
P58L (p.Pro58Leu) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- rs766148703
- ClinGen CA7649498
- ClinVar RCV002407481
- ExAC rs766148703
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.37
- MetaLR 0.79
- MetaSVM 0.59
- CADD 22.50
- PolyPhen-2 0.27
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available