F85L (p.Phe85Leu) variant of MMAA (Q8IVH4)
F85L (p.Phe85Leu) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
F85L (p.Phe85Leu) variant details
- p.Phe85Leu
- gnomAD 4-145639392-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available