L58V (p.Leu58Val) variant of AGTRAP (Q6RW13)
L58V (p.Leu58Val) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
L58V (p.Leu58Val) variant details
- p.Leu58Val
- rs1438510696
- gnomAD 1-11746185-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0521
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 0.03
- SIFT 0.67
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available