L11R (p.Leu11Arg) variant of TRMU (O75648)
L11R (p.Leu11Arg) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- TOPMed rs1297485958
- gnomAD rs1297485958
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 31.00
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available