P20S (p.Pro20Ser) variant of LMNA (Prelamin-A/C)
P20S (p.Pro20Ser) 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 Cardiovascular phenotype; Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- rs2527829907
- ClinGen CA342807129
- ClinVar RCV004014763
- ClinVar RCV004994419
- Uncertain significance
- Cardiovascular phenotype; Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.63
- CADD 23.30
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; Primary dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)