V36L (p.Val36Leu) variant of OPA1 (O60313)
V36L (p.Val36Leu) 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 0.27 / 1. The record also includes population frequency data and structural context.
V36L (p.Val36Leu) variant details
- p.Val36Leu
- rs1728762972
- ClinGen CA355786512
- ClinVar RCV003332866
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.19
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available