L35P (p.Leu35Pro) variant of OPA1 (O60313)
L35P (p.Leu35Pro) 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 0.42 / 1. The record also includes structural context.
L35P (p.Leu35Pro) variant details
- p.Leu35Pro
- rs757398708
- ClinGen CA90567008
- ClinVar RCV002909205
- Ensembl rs757398708
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.11
- MetaLR 0.42
- MetaSVM -0.40
- PolyPhen-2 0.00
- SIFT 0.15
- MutPred 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available