K941T (p.Lys941Thr) variant of OPA1 (O60313)
K941T (p.Lys941Thr) 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 0.52 / 1. The record also includes structural context.
K941T (p.Lys941Thr) variant details
- p.Lys941Thr
- rs1721758840
- ClinGen CA355873156
- ClinVar RCV001353002
- Ensembl rs1721758840
- Likely pathogenic
- Autosomal dominant optic atrophy classic form
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- AlphaMissense 0.52
- MetaLR 0.58
- MetaSVM 0.06
- PolyPhen-2 0.01
- SIFT 0.08
- EVE 0.39
- ClinVar: Likely pathogenic (Autosomal dominant optic atrophy classic form)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available