E40E (p.Glu40Glu) variant of TPM1 (Tropomyosin alpha-1 chain)
E40E (p.Glu40Glu) in TPM1 (Tropomyosin alpha-1 chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E40E (p.Glu40Glu) variant details
- p.Glu40Glu
- rs397516491
- gnomAD 15-63043711-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 21.80
- Most common in the 1KG:TSI population (allele frequency 0.0097)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)