F85S (p.Phe85Ser) variant of MMAA (Q8IVH4)
F85S (p.Phe85Ser) 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 and structural context.
F85S (p.Phe85Ser) variant details
- p.Phe85Ser
- ESP rs372082521
- TOPMed rs372082521
- gnomAD rs372082521
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available