A48V (p.Ala48Val) variant of HCN1 (O60741)
A48V (p.Ala48Val) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- TOPMed rs1415475910
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.28
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available