R19G (p.Arg19Gly) variant of MMAB (Q96EY8)
R19G (p.Arg19Gly) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- gnomAD rs1566139298
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available