A53T (p.Ala53Thr) variant of AGTRAP (Q6RW13)
A53T (p.Ala53Thr) 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 0.62 / 1. The record also includes population frequency data and structural context.
A53T (p.Ala53Thr) variant details
- p.Ala53Thr
- rs201093684
- ClinGen CA594469
- ClinVar RCV004085613
- 1000Genomes rs201093684
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.16
- MetaSVM -0.82
- CADD 27.90
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available