P54S (p.Pro54Ser) variant of HCN4 (Q9Y3Q4)
P54S (p.Pro54Ser) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- gnomAD rs2043138198
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.32
- MetaLR 0.83
- MetaSVM 0.61
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available