L18M (p.Leu18Met) variant of AGTRAP (Q6RW13)
L18M (p.Leu18Met) 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.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- 1000Genomes rs532577781
- ExAC rs532577781
- gnomAD rs532577781
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.26
- ESM-1b 0.13
- AlphaMissense 0.30
- MetaLR 0.36
- MetaSVM -0.40
- CADD 24.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available