A126T (p.Ala126Thr) variant of PON1 (Serum paraoxonase/arylesterase 1)
A126T (p.Ala126Thr) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A126T (p.Ala126Thr) variant details
- p.Ala126Thr
- rs148785172
- ClinGen CA4350300
- ClinVar RCV001355528
- 1000Genomes rs148785172
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.04
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.42)
- Structural context available