V44L (p.Val44Leu) variant of TPM1 (Tropomyosin alpha-1 chain)
V44L (p.Val44Leu) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V44L (p.Val44Leu) variant details
- p.Val44Leu
- gnomAD rs1406954948
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.17
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available