P16S (p.Pro16Ser) variant of HCN4 (Q9Y3Q4)
P16S (p.Pro16Ser) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P16S (p.Pro16Ser) variant details
- p.Pro16Ser
- TOPMed rs969545699
- gnomAD rs969545699
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.55
- MetaLR 0.90
- MetaSVM 1.00
- CADD 23.40
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available