Q2R (p.Gln2Arg) variant of TRMU (O75648)
Q2R (p.Gln2Arg) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
Q2R (p.Gln2Arg) variant details
- p.Gln2Arg
- ExAC rs750081134
- gnomAD rs750081134
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 5.55
- PolyPhen-2 0.01
- SIFT 0.52
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available