L50V (p.Leu50Val) variant of TPM1 (Tropomyosin alpha-1 chain)
L50V (p.Leu50Val) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- gnomAD 15-63043739-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 19.90
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available