L58P (p.Leu58Pro) variant of AGTRAP (Q6RW13)
L58P (p.Leu58Pro) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L58P (p.Leu58Pro) variant details
- p.Leu58Pro
- rs759342369
- gnomAD 1-11746186-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.02
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 0.63
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available