Q10E (p.Gln10Glu) variant of MMAA (Q8IVH4)
Q10E (p.Gln10Glu) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q10E (p.Gln10Glu) variant details
- p.Gln10Glu
- gnomAD 4-145639167-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 8.13
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available