V40L (p.Val40Leu) variant of MMAB (Q96EY8)
V40L (p.Val40Leu) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V40L (p.Val40Leu) variant details
- p.Val40Leu
- TOPMed rs1189614583
- gnomAD rs1189614583
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 17.60
- PolyPhen-2 0.05
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available