H33L (p.His33Leu) variant of MMAA (Q8IVH4)
H33L (p.His33Leu) in MMAA (Q8IVH4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
H33L (p.His33Leu) variant details
- p.His33Leu
- gnomAD 4-145639236-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 16.00
- Population evidence available
- Structural context available
- Literature evidence available