L8P (p.Leu8Pro) variant of AGTRAP (Q6RW13)
L8P (p.Leu8Pro) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- gnomAD 1-11736231-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.28
- MetaSVM -0.60
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available