P39Q (p.Pro39Gln) variant of MMAA (Q8IVH4)
P39Q (p.Pro39Gln) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P39Q (p.Pro39Gln) variant details
- p.Pro39Gln
- cosmic curated COSV55581
- ESP rs150065810
- ExAC rs150065810
- TOPMed rs150065810
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 0.70
- PolyPhen-2 0.05
- SIFT 0.36
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available