Q47E (p.Gln47Glu) variant of TPM1 (Tropomyosin alpha-1 chain)
Q47E (p.Gln47Glu) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
Q47E (p.Gln47Glu) variant details
- p.Gln47Glu
- rs2031854538
- ClinGen CA392718526
- ClinVar RCV001256204
- Ensembl rs2031854538
- Uncertain significance
- Hypertrophic cardiomyopathy 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.15
- MetaLR 0.38
- MetaSVM -0.52
- PolyPhen-2 0.00
- SIFT 0.17
- MutPred 0.23
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)