L12F (p.Leu12Phe) variant of AGTRAP (Q6RW13)
L12F (p.Leu12Phe) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- gnomAD rs1458909890
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.20
- ESM-1b 0.69
- AlphaMissense 0.34
- MetaLR 0.17
- MetaSVM -0.75
- CADD 24.50
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available