V42L (p.Val42Leu) variant of AGTRAP (Q6RW13)
V42L (p.Val42Leu) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V42L (p.Val42Leu) variant details
- p.Val42Leu
- ExAC rs746794742
- TOPMed rs746794742
- gnomAD rs746794742
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.19
- ESM-1b 0.02
- AlphaMissense 0.45
- MetaLR 0.25
- MetaSVM -0.68
- CADD 25.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available