I27H (p.Ile27His) variant of MMAA (Q8IVH4)
I27H (p.Ile27His) in MMAA (Q8IVH4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I27H (p.Ile27His) variant details
- p.Ile27His
- rs762276953
- gnomAD 4-145639216-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 22.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available