N67S (p.Asn67Ser) variant of OPA1 (O60313)
N67S (p.Asn67Ser) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N67S (p.Asn67Ser) variant details
- p.Asn67Ser
- gnomAD rs1728775021
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.23
- CADD 19.00
- Most common in the HGDP:MBUTI population (allele frequency 0.96)
- Structural context available