S22A (p.Ser22Ala) variant of LMNA (Prelamin-A/C)
S22A (p.Ser22Ala) 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 0.92 / 1. The record also includes structural context.
S22A (p.Ser22Ala) variant details
- p.Ser22Ala
- rs794728599
- ClinGen CA018394
- ClinVar RCV000182379
- Ensembl rs794728599
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- ESM-1b 1.00
- AlphaMissense 0.82
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available