L50M (p.Leu50Met) variant of TPM1 (Tropomyosin alpha-1 chain)
L50M (p.Leu50Met) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L50M (p.Leu50Met) variant details
- p.Leu50Met
- gnomAD 15-63043736-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available