N240K (p.Asn240Lys) variant of OPA1 (O60313)
N240K (p.Asn240Lys) 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 0.50 / 1. The record also includes population frequency data and structural context.
N240K (p.Asn240Lys) variant details
- p.Asn240Lys
- rs750185470
- ClinGen CA2759203
- ClinVar RCV001647169
- ExAC rs750185470
- Likely pathogenic
- Autosomal dominant optic atrophy classic form
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- AlphaMissense 0.99
- MetaLR 0.40
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Autosomal dominant optic atrophy classic form)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available