P43A (p.Pro43Ala) variant of HCN4 (Q9Y3Q4)
P43A (p.Pro43Ala) 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 0.37 / 1. The record also includes population frequency data and structural context.
P43A (p.Pro43Ala) variant details
- p.Pro43Ala
- rs2549080660
- ClinGen CA393098943
- ClinVar RCV004521401
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.31
- MetaLR 0.62
- MetaSVM -0.28
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.13
- 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