S64F (p.Ser64Phe) variant of OPA1 (O60313)
S64F (p.Ser64Phe) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S64F (p.Ser64Phe) variant details
- p.Ser64Phe
- rs1333436619
- ClinGen CA355786698
- ClinVar RCV003673846
- gnomAD rs1333436619
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.64
- CADD 25.50
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.55)
- Structural context available