L11P (p.Leu11Pro) variant of TRMU (O75648)
L11P (p.Leu11Pro) in TRMU (O75648) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- TOPMed rs1297485958
- gnomAD rs1297485958
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 32.00
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available