P43L (p.Pro43Leu) variant of HCN1 (O60741)
P43L (p.Pro43Leu) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- rs1060500095
- ClinGen CA16612082
- ClinVar RCV006462848
- gnomAD rs1060500095
- Likely benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.29
- AlphaMissense 0.11
- MetaLR 0.74
- MetaSVM 0.04
- CADD 18.80
- PolyPhen-2 0.00
- ClinVar: Likely benign (Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 4.2e-05)
- Structural context available