W2L (p.Trp2Leu) variant of OPA1 (O60313)
W2L (p.Trp2Leu) 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 0.48 / 1. The record also includes population frequency data and structural context.
W2L (p.Trp2Leu) variant details
- p.Trp2Leu
- rs1396144821
- ClinGen CA355785438
- ClinVar RCV003022243
- gnomAD rs1396144821
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.29
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available