V18L (p.Val18Leu) variant of OPA1 (O60313)
V18L (p.Val18Leu) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- rs2108864324
- ClinGen CA355786399
- ClinVar RCV002248067
- Ensembl rs2108864324
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.11
- MetaLR 0.54
- MetaSVM -0.16
- PolyPhen-2 0.00
- SIFT 0.17
- MutPred 0.28
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available