V13G (p.Val13Gly) variant of OPA1 (O60313)
V13G (p.Val13Gly) 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 0.46 / 1. The record also includes structural context.
V13G (p.Val13Gly) variant details
- p.Val13Gly
- rs1728753452
- ClinGen CA355786371
- ClinVar RCV003716262
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.16
- MetaLR 0.49
- MetaSVM -0.10
- PolyPhen-2 0.00
- SIFT 0.27
- MutPred 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available