G13R (p.Gly13Arg) variant of MMAB (Q96EY8)
G13R (p.Gly13Arg) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- TOPMed rs1884743370
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available