P4S (p.Pro4Ser) variant of AGTRAP (Q6RW13)
P4S (p.Pro4Ser) in AGTRAP (Q6RW13) is a missense change. Clinical records from ClinVar 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 0.37 / 1. The record also includes population frequency data and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- TOPMed rs1404261833
- gnomAD rs1404261833
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.39
- MetaLR 0.19
- MetaSVM -0.64
- CADD 27.80
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available