Q7R (p.Gln7Arg) variant of MMUT (P22033)
Q7R (p.Gln7Arg) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- ExAC rs776721240
- gnomAD rs776721240
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.27
- CADD 2.11
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available