P77L (p.Pro77Leu) variant of AGTRAP (Q6RW13)
P77L (p.Pro77Leu) in AGTRAP (Q6RW13) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P77L (p.Pro77Leu) variant details
- p.Pro77Leu
- gnomAD rs1259685768
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.22
- MetaLR 0.12
- MetaSVM -0.96
- CADD 16.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available