A34V (p.Ala34Val) variant of HCN1 (O60741)
A34V (p.Ala34Val) 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 0.33 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- rs1740005052
- ClinGen CA359706744
- cosmic curated COSV10961
- ClinVar RCV006468960
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.24
- CADD 8.82
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available