R76G (p.Arg76Gly) variant of MMUT (P22033)
R76G (p.Arg76Gly) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R76G (p.Arg76Gly) variant details
- p.Arg76Gly
- ExAC rs752686314
- gnomAD rs752686314
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.28
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available