L40Q (p.Leu40Gln) variant of AGTRAP (Q6RW13)
L40Q (p.Leu40Gln) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L40Q (p.Leu40Gln) variant details
- p.Leu40Gln
- gnomAD 1-11746159-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.73
- CADD 1.77
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available