R88G (p.Arg88Gly) variant of HCN1 (O60741)
R88G (p.Arg88Gly) 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 0.41 / 1. The record also includes population frequency data and structural context.
R88G (p.Arg88Gly) variant details
- p.Arg88Gly
- rs774375241
- ClinGen CA3259484
- ClinVar RCV006466636
- ExAC rs774375241
- Likely benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.29
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Likely benign (Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available