A32V (p.Ala32Val) variant of TPM1 (Tropomyosin alpha-1 chain)
A32V (p.Ala32Val) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- gnomAD 15-63042924-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.50
- CADD 24.00
- PolyPhen-2 0.45
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available