L56P (p.Leu56Pro) variant of MMAA (Q8IVH4)
L56P (p.Leu56Pro) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L56P (p.Leu56Pro) variant details
- p.Leu56Pro
- Ensembl rs1727712489
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available