L4W (p.Leu4Trp) variant of TRMU (O75648)
L4W (p.Leu4Trp) in TRMU (O75648) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L4W (p.Leu4Trp) variant details
- p.Leu4Trp
- gnomAD rs1353951169
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 18.90
- PolyPhen-2 0.27
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available