G52S (p.Gly52Ser) variant of TPM1 (Tropomyosin alpha-1 chain)
G52S (p.Gly52Ser) 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 not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G52S (p.Gly52Ser) variant details
- p.Gly52Ser
- rs730881127
- ClinGen CA018660
- ClinVar RCV000159348
- ClinVar RCV001178562
- Uncertain significance
- not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.31
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (not provided; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)