H6Q (p.His6Gln) variant of TRMU (O75648)
H6Q (p.His6Gln) 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 0.43 / 1. The record also includes population frequency data and structural context.
H6Q (p.His6Gln) variant details
- p.His6Gln
- 1000Genomes rs527315924
- ExAC rs527315924
- TOPMed rs527315924
- gnomAD rs527315924
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 22.00
- PolyPhen-2 0.14
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available