D59G (p.Asp59Gly) variant of MMAA (Q8IVH4)
D59G (p.Asp59Gly) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
D59G (p.Asp59Gly) variant details
- p.Asp59Gly
- gnomAD rs1371322650
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 11.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available