G35R (p.Gly35Arg) variant of MMAA (Q8IVH4)
G35R (p.Gly35Arg) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G35R (p.Gly35Arg) variant details
- p.Gly35Arg
- TOPMed rs1408339591
- gnomAD rs1408339591
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 1.02
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available