S58F (p.Ser58Phe) variant of OPA1 (O60313)
S58F (p.Ser58Phe) in OPA1 (O60313) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S58F (p.Ser58Phe) variant details
- p.Ser58Phe
- rs1417008261
- gnomAD rs1417008261
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.47
- CADD 22.80
- PolyPhen-2 0.26
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:LWK population (allele frequency 0.17)
- Structural context available