E42A (p.Glu42Ala) variant of CAV3 (Caveolin-3)
E42A (p.Glu42Ala) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E42A (p.Glu42Ala) variant details
- p.Glu42Ala
- rs137901165
- ClinGen CA2236324
- ClinVar RCV000472187
- ClinVar RCV000598341
- Uncertain significance
- Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 24.30
- PolyPhen-2 0.84
- SIFT 0.04
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling musc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)