N67F (p.Asn67Phe) variant of OPA1 (O60313)
N67F (p.Asn67Phe) in OPA1 (O60313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N67F (p.Asn67Phe) variant details
- p.Asn67Phe
- gnomAD 3-193614885-GACAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 25.70
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Literature evidence available