S422R (p.Ser422Arg) variant of OPA1 (O60313)
S422R (p.Ser422Arg) 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 0.85 / 1. The record also includes structural context.
S422R (p.Ser422Arg) variant details
- p.Ser422Arg
- rs1553877941
- ClinGen CA355789568
- ClinVar RCV000516850
- Ensembl rs1553877941
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.57
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available