A48S (p.Ala48Ser) variant of HCN1 (O60741)
A48S (p.Ala48Ser) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A48S (p.Ala48Ser) variant details
- p.Ala48Ser
- Ensembl rs866992298
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.23
- CADD 7.70
- PolyPhen-2 0.00
- SIFT 0.89
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available