V42M (p.Val42Met) variant of AGTRAP (Q6RW13)
V42M (p.Val42Met) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V42M (p.Val42Met) variant details
- p.Val42Met
- cosmic curated COSV58668
- ExAC rs746794742
- TOPMed rs746794742
- gnomAD rs746794742
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.31
- MetaSVM -0.39
- CADD 27.00
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available