R5Q (p.Arg5Gln) variant of TRMU (O75648)
R5Q (p.Arg5Gln) 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 0.64 / 1. The record also includes population frequency data and structural context.
R5Q (p.Arg5Gln) variant details
- p.Arg5Gln
- cosmic curated COSV51990
- 1000Genomes rs568649964
- ExAC rs568649964
- TOPMed rs568649964
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 32.00
- PolyPhen-2 0.78
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available