N67N (p.Asn67Asn) variant of OPA1 (O60313)
N67N (p.Asn67Asn) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
N67N (p.Asn67Asn) variant details
- p.Asn67Asn
- rs375473766
- gnomAD 3-193614891-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 7.90
- Most common in the HGDP:MBUTI population (allele frequency 0.96)
- Structural context available
- Literature evidence available