V44A (p.Val44Ala) variant of TPM1 (Tropomyosin alpha-1 chain)
V44A (p.Val44Ala) 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.
V44A (p.Val44Ala) variant details
- p.Val44Ala
- gnomAD 15-63043770-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available