A31V (p.Ala31Val) variant of TPM1 (Tropomyosin alpha-1 chain)
A31V (p.Ala31Val) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- gnomAD 15-63042921-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.41
- CADD 23.80
- PolyPhen-2 0.12
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available