A15T (p.Ala15Thr) variant of PON1 (Serum paraoxonase/arylesterase 1)
A15T (p.Ala15Thr) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- NCI-TCGA Cosmic COSV5593
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.15
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available