T3A (p.Thr3Ala) variant of LMNA (Prelamin-A/C)
T3A (p.Thr3Ala) 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 Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- rs1183004393
- ClinGen CA342805889
- ClinVar RCV001900220
- ClinVar RCV003130563
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.57
- ESM-1b 0.74
- AlphaMissense 0.49
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)