V8L (p.Val8Leu) variant of TRMU (O75648)
V8L (p.Val8Leu) in TRMU (O75648) 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 and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- ExAC rs774656347
- TOPMed rs774656347
- gnomAD rs774656347
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 30.00
- PolyPhen-2 0.88
- SIFT 0.01
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available