L13Q (p.Leu13Gln) variant of AGTRAP (Q6RW13)
L13Q (p.Leu13Gln) in AGTRAP (Q6RW13) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L13Q (p.Leu13Gln) variant details
- p.Leu13Gln
- rs1439121444
- gnomAD 1-11745812-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 26.50
- Population evidence available
- Structural context available
- Literature evidence available