T3S (p.Thr3Ser) variant of LMNA (Prelamin-A/C)
T3S (p.Thr3Ser) in LMNA (Prelamin-A/C) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T3S (p.Thr3Ser) variant details
- p.Thr3Ser
- TOPMed rs1235021953
- gnomAD rs1235021953
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.48
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available