N430I (p.Asn430Ile) variant of OPA1 (O60313)
N430I (p.Asn430Ile) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant optic atrophy classic form. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
N430I (p.Asn430Ile) variant details
- p.Asn430Ile
- rs1577243012
- ClinGen CA355789625
- ClinVar RCV000987380
- Ensembl rs1577243012
- Likely pathogenic
- Autosomal dominant optic atrophy classic form
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Autosomal dominant optic atrophy classic form)
- EBI: Likely pathogenic (in OPA1)
- UniProt: Likely pathogenic (in OPA1)
- Structural context available