L16I (p.Leu16Ile) variant of MMAA (Q8IVH4)
L16I (p.Leu16Ile) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L16I (p.Leu16Ile) variant details
- p.Leu16Ile
- gnomAD 4-145639185-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 20.30
- PolyPhen-2 0.12
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available