K32Q (p.Lys32Gln) variant of OPA1 (O60313)
K32Q (p.Lys32Gln) 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 0.43 / 1. The record also includes population frequency data and structural context.
K32Q (p.Lys32Gln) variant details
- p.Lys32Gln
- rs933583665
- ClinGen CA90567004
- ClinVar RCV003691947
- Ensembl rs933583665
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.33
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available