A50V (p.Ala50Val) variant of HCN1 (O60741)
A50V (p.Ala50Val) 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 0.29 / 1. The record also includes population frequency data and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- rs2478644516
- ClinGen CA359706650
- ClinVar RCV006559538
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.21
- AlphaMissense 0.09
- MetaLR 0.76
- MetaSVM 0.57
- CADD 11.20
- PolyPhen-2 0.44
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 8.5e-05)
- Structural context available