S43P (p.Ser43Pro) variant of OPA1 (O60313)
S43P (p.Ser43Pro) 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 0.50 / 1. The record also includes population frequency data and structural context.
S43P (p.Ser43Pro) variant details
- p.Ser43Pro
- rs1315189266
- ClinGen CA355786554
- ClinVar RCV001933806
- TOPMed rs1315189266
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.42
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available