A35V (p.Ala35Val) variant of HCN1 (O60741)
A35V (p.Ala35Val) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- rs1344167758
- ClinGen CA359706738
- ClinVar RCV006564024
- TOPMed rs1344167758
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.22
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available