A30S (p.Ala30Ser) variant of HCN1 (O60741)
A30S (p.Ala30Ser) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- TOPMed rs1740005445
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.22
- AlphaMissense 0.14
- MetaLR 0.87
- MetaSVM 0.44
- CADD 8.01
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available