L39L (p.Leu39Leu) variant of TPM1 (Tropomyosin alpha-1 chain)
L39L (p.Leu39Leu) in TPM1 (Tropomyosin alpha-1 chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L39L (p.Leu39Leu) variant details
- p.Leu39Leu
- gnomAD 15-63043708-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.53
- Population evidence available
- Structural context available
- Literature evidence available