S100A (p.Ser100Ala) variant of HCN1 (O60741)
S100A (p.Ser100Ala) 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 0.34 / 1. The record also includes population frequency data and structural context.
S100A (p.Ser100Ala) variant details
- p.Ser100Ala
- rs780364002
- ClinGen CA3259471
- ClinVar RCV006609001
- ExAC rs780364002
- Likely benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.22
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Likely benign (Early-infantile DEE)
- EBI: Likely benign (in DEE24)
- UniProt: Likely benign (in DEE24)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available