G70S (p.Gly70Ser) variant of HCN1 (O60741)
G70S (p.Gly70Ser) in HCN1 (O60741) 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.
G70S (p.Gly70Ser) variant details
- p.Gly70Ser
- TOPMed rs1255330911
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.26
- AlphaMissense 0.10
- MetaLR 0.77
- MetaSVM 0.18
- CADD 18.90
- PolyPhen-2 1.00
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available