L6P (p.Leu6Pro) variant of MMAB (Q96EY8)
L6P (p.Leu6Pro) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- TOPMed rs1485879857
- gnomAD rs1485879857
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.37
- ESM-1b 0.90
- AlphaMissense 0.08
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available