P39L (p.Pro39Leu) variant of MMAA (Q8IVH4)
P39L (p.Pro39Leu) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- ESP rs150065810
- ExAC rs150065810
- TOPMed rs150065810
- gnomAD rs150065810
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.53
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available