L27I (p.Leu27Ile) variant of MMAB (Q96EY8)
L27I (p.Leu27Ile) in MMAB (Q96EY8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L27I (p.Leu27Ile) variant details
- p.Leu27Ile
- 1000Genomes rs150895111
- ESP rs150895111
- ExAC rs150895111
- TOPMed rs150895111
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available