L49F (p.Leu49Phe) variant of MMAA (Q8IVH4)
L49F (p.Leu49Phe) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L49F (p.Leu49Phe) variant details
- p.Leu49Phe
- TOPMed rs991910272
- gnomAD rs991910272
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 7.93
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available