S39G (p.Ser39Gly) variant of OPA1 (O60313)
S39G (p.Ser39Gly) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S39G (p.Ser39Gly) variant details
- p.Ser39Gly
- rs1282452294
- ClinGen CA355786526
- ClinVar RCV002711361
- TOPMed rs1282452294
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.35
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available