p.Val34 Phe35insLeu variant of TRMU (O75648)
p.Val34 Phe35insLeu in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val34 Phe35insLeu variant details
- gnomAD 22-46337796-G-GTG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 22.60
- Most common in the Ashkenazi Jewish population (allele frequency 0.024)
- Structural context available
- Literature evidence available