A71T (p.Ala71Thr) variant of HCN4 (Q9Y3Q4)
A71T (p.Ala71Thr) 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 0.36 / 1. The record also includes population frequency data and structural context.
A71T (p.Ala71Thr) variant details
- p.Ala71Thr
- rs1360146681
- ClinGen CA393098704
- ClinVar RCV002417605
- gnomAD rs1360146681
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.27
- MetaLR 0.73
- MetaSVM 0.06
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available