I5T (p.Ile5Thr) variant of PON1 (Serum paraoxonase/arylesterase 1)
I5T (p.Ile5Thr) 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 0.15 / 1. The record also includes population frequency data and structural context.
I5T (p.Ile5Thr) variant details
- p.Ile5Thr
- rs763855506
- NCI-TCGA Cosmic COSV5593
- ExAC rs763855506
- gnomAD rs763855506
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.04
- CADD 7.98
- PolyPhen-2 0.00
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available