R31G (p.Arg31Gly) variant of MMAB (Q96EY8)
R31G (p.Arg31Gly) in MMAB (Q96EY8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- ESP rs142447736
- ExAC rs142447736
- TOPMed rs142447736
- gnomAD rs142447736
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.43
- ESM-1b 0.21
- AlphaMissense 0.08
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available