L17I (p.Leu17Ile) variant of MMAA (Q8IVH4)
L17I (p.Leu17Ile) 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.
L17I (p.Leu17Ile) variant details
- p.Leu17Ile
- gnomAD 4-145639188-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 7.66
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available