R89C (p.Arg89Cys) variant of LMNA (Prelamin-A/C)
R89C (p.Arg89Cys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Heart-hand syndrome, Slovenian type. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
R89C (p.Arg89Cys) variant details
- p.Arg89Cys
- rs267607559
- ClinGen CA017826
- ClinVar RCV000057382
- ClinVar RCV004767053
- Likely pathogenic
- Heart-hand syndrome, Slovenian type
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Heart-hand syndrome, Slovenian type)
- EBI: Likely pathogenic (in CMD1A)
- UniProt: Likely pathogenic (in CMD1A)
- Structural context available