A32T (p.Ala32Thr) variant of TPM1 (Tropomyosin alpha-1 chain)
A32T (p.Ala32Thr) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- gnomAD 15-63042923-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.54
- CADD 26.10
- PolyPhen-2 0.56
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available