D62V (p.Asp62Val) variant of HCN1 (O60741)
D62V (p.Asp62Val) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
D62V (p.Asp62Val) variant details
- p.Asp62Val
- rs1554040136
- ClinGen CA359706567
- ClinVar RCV000585338
- Ensembl rs1554040136
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.42
- MetaLR 0.71
- MetaSVM -0.15
- PolyPhen-2 0.00
- SIFT 0.07
- MutPred 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available