P4T (p.Pro4Thr) variant of LMNA (Prelamin-A/C)
P4T (p.Pro4Thr) 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 0.53 / 1. The record also includes population frequency data and structural context.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- gnomAD rs1477323839
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.47
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available