Q10H (p.Gln10His) variant of MMAA (Q8IVH4)
Q10H (p.Gln10His) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- TOPMed rs1398642545
- gnomAD rs1398642545
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 8.22
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available