Q61E (p.Gln61Glu) variant of OPA1 (O60313)
Q61E (p.Gln61Glu) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q61E (p.Gln61Glu) variant details
- p.Gln61Glu
- gnomAD 3-193614871-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.19
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the HGDP:OROQEN population (allele frequency 0.12)
- Structural context available
- Literature evidence available