P4H (p.Pro4His) variant of AGTRAP (Q6RW13)
P4H (p.Pro4His) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P4H (p.Pro4His) variant details
- p.Pro4His
- gnomAD 1-11736219-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.30
- ESM-1b 0.61
- AlphaMissense 0.50
- MetaLR 0.24
- MetaSVM -0.45
- CADD 29.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available