S9P (p.Ser9Pro) variant of HCN1 (O60741)
S9P (p.Ser9Pro) 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 0.38 / 1. The record also includes population frequency data and structural context.
S9P (p.Ser9Pro) variant details
- p.Ser9Pro
- rs1554040148
- ClinGen CA359706909
- ClinVar RCV006607411
- Ensembl rs1554040148
- Likely benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.40
- CADD 23.90
- PolyPhen-2 0.35
- SIFT 0.03
- ClinVar: Likely benign (Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.4e-05)
- Structural context available