V7L (p.Val7Leu) variant of TRMU (O75648)
V7L (p.Val7Leu) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- ExAC rs777781494
- TOPMed rs777781494
- gnomAD rs777781494
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available