A25E (p.Ala25Glu) variant of TPM1 (Tropomyosin alpha-1 chain)
A25E (p.Ala25Glu) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A25E (p.Ala25Glu) variant details
- p.Ala25Glu
- gnomAD 15-63042903-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.65
- CADD 27.70
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available