F44L (p.Phe44Leu) variant of MMAA (Q8IVH4)
F44L (p.Phe44Leu) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
F44L (p.Phe44Leu) variant details
- p.Phe44Leu
- ExAC rs746489522
- gnomAD rs746489522
- Missense
- Variant Prioritization Score for Impact Estimate 0.0968
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 0.86
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available