D34E (p.Asp34Glu) variant of TPM1 (Tropomyosin alpha-1 chain)
D34E (p.Asp34Glu) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D34E (p.Asp34Glu) variant details
- p.Asp34Glu
- gnomAD 15-63042931-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.33
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available