D34N (p.Asp34Asn) variant of LMNA (Prelamin-A/C)
D34N (p.Asp34Asn) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
D34N (p.Asp34Asn) variant details
- p.Asp34Asn
- rs886042491
- ClinGen CA10604308
- ClinVar RCV000278648
- Ensembl rs886042491
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- ESM-1b 1.00
- AlphaMissense 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available