M3I (p.Met3Ile) variant of MMAA (Q8IVH4)
M3I (p.Met3Ile) in MMAA (Q8IVH4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
M3I (p.Met3Ile) variant details
- p.Met3Ile
- gnomAD 4-145639147-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 22.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available