R54G (p.Arg54Gly) variant of MMAB (Q96EY8)
R54G (p.Arg54Gly) 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.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- Ensembl rs1566137866
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available