A34S (p.Ala34Ser) variant of HCN1 (O60741)
A34S (p.Ala34Ser) in HCN1 (O60741) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A34S (p.Ala34Ser) variant details
- p.Ala34Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.22
- AlphaMissense 0.15
- MetaLR 0.67
- MetaSVM -0.11
- CADD 12.00
- PolyPhen-2 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available