L16F (p.Leu16Phe) variant of MMAB (Q96EY8)
L16F (p.Leu16Phe) in MMAB (Q96EY8) 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 and structural context.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- Ensembl rs1884742324
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.19
- ESM-1b 0.58
- AlphaMissense 0.08
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available