L17I (p.Leu17Ile) variant of OPA1 (O60313)
L17I (p.Leu17Ile) 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 0.29 / 1. The record also includes population frequency data and structural context.
L17I (p.Leu17Ile) variant details
- p.Leu17Ile
- rs760770105
- ClinGen CA2758930
- ClinVar RCV000523840
- ExAC rs760770105
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.30
- CADD 17.80
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.13)
- Structural context available