A53S (p.Ala53Ser) variant of AGTRAP (Q6RW13)
A53S (p.Ala53Ser) in AGTRAP (Q6RW13) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A53S (p.Ala53Ser) variant details
- p.Ala53Ser
- 1000Genomes rs201093684
- ExAC rs201093684
- TOPMed rs201093684
- gnomAD rs201093684
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.37
- ESM-1b 0.08
- AlphaMissense 0.21
- MetaLR 0.10
- MetaSVM -1.00
- CADD 26.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available