G20R (p.Gly20Arg) variant of MMAB (Q96EY8)
G20R (p.Gly20Arg) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- Ensembl rs1566139259
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 7.05
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available