L50S (p.Leu50Ser) variant of TPM1 (Tropomyosin alpha-1 chain)
L50S (p.Leu50Ser) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L50S (p.Leu50Ser) variant details
- p.Leu50Ser
- gnomAD 15-63043737-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available