P43Q (p.Pro43Gln) variant of HCN1 (O60741)
P43Q (p.Pro43Gln) 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 0.40 / 1. The record also includes population frequency data and structural context.
P43Q (p.Pro43Gln) variant details
- p.Pro43Gln
- rs1060500095
- ClinGen CA359706690
- ClinVar RCV006562521
- gnomAD rs1060500095
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.32
- AlphaMissense 0.10
- MetaLR 0.74
- MetaSVM 0.11
- CADD 16.70
- PolyPhen-2 0.05
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available