Q2H (p.Gln2His) variant of TRMU (O75648)
Q2H (p.Gln2His) in TRMU (O75648) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q2H (p.Gln2His) variant details
- p.Gln2His
- ExAC rs758055404
- gnomAD rs758055404
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 15.60
- PolyPhen-2 0.09
- SIFT 0.13
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available