A23S (p.Ala23Ser) variant of HCN1 (O60741)
A23S (p.Ala23Ser) 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 0.32 / 1. The record also includes population frequency data and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- rs1740006250
- ClinGen CA359706811
- ClinVar RCV006563185
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.21
- AlphaMissense 0.71
- MetaLR 0.79
- MetaSVM 0.35
- CADD 9.60
- PolyPhen-2 0.04
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.2e-05)
- Structural context available