L12V (p.Leu12Val) variant of MMAB (Q96EY8)
L12V (p.Leu12Val) 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.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- TOPMed rs1884743761
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.21
- ESM-1b 0.57
- AlphaMissense 0.07
- CADD 11.40
- PolyPhen-2 0.02
- SIFT 0.05
- Population evidence available
- Structural context available