A2V (p.Ala2Val) variant of PON1 (Serum paraoxonase/arylesterase 1)
A2V (p.Ala2Val) 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 0.17 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs756961976
- NCI-TCGA Cosmic COSV5593
- ExAC rs756961976
- TOPMed rs756961976
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.10
- CADD 14.60
- PolyPhen-2 0.20
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available