P4Q (p.Pro4Gln) variant of LMNA (Prelamin-A/C)
P4Q (p.Pro4Gln) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Heart-hand syndrome, Slovenian type; Charcot-Marie-Tooth disease type 2B1; Mandi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P4Q (p.Pro4Gln) variant details
- p.Pro4Gln
- rs267607620
- ClinGen CA342805937
- ClinVar RCV002010787
- ClinVar RCV004990559
- Conflicting interpretations
- Heart-hand syndrome, Slovenian type; Charcot-Marie-Tooth disease type 2B1; Mandi
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.68
- CADD 24.20
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Heart-hand syndrome, Slovenian type; Charcot-Marie-Tooth disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)