H20Q (p.His20Gln) variant of OPA1 (O60313)
H20Q (p.His20Gln) in OPA1 (O60313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
H20Q (p.His20Gln) variant details
- p.His20Gln
- gnomAD 3-193614746-AAC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 23.10
- Most common in the HGDP:ORCADIAN population (allele frequency 0.5)
- Structural context available
- Literature evidence available