A23V (p.Ala23Val) variant of HCN1 (O60741)
A23V (p.Ala23Val) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- rs1060500096
- ClinGen CA16611998
- ClinVar RCV006606409
- 1000Genomes rs1060500096
- Benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.23
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Benign (Early-infantile DEE)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available