A31E (p.Ala31Glu) variant of TPM1 (Tropomyosin alpha-1 chain)
A31E (p.Ala31Glu) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A31E (p.Ala31Glu) variant details
- p.Ala31Glu
- ExAC rs749500508
- gnomAD rs749500508
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.41
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.88
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available