L47P (p.Leu47Pro) variant of MMAA (Q8IVH4)
L47P (p.Leu47Pro) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L47P (p.Leu47Pro) variant details
- p.Leu47Pro
- TOPMed rs1727710015
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 6.84
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available