I27L (p.Ile27Leu) variant of MMAA (Q8IVH4)
I27L (p.Ile27Leu) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I27L (p.Ile27Leu) variant details
- p.Ile27Leu
- ExAC rs756348773
- gnomAD rs756348773
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 7.40
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available