M127R (p.Met127Arg) variant of PON1 (Serum paraoxonase/arylesterase 1)
M127R (p.Met127Arg) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
M127R (p.Met127Arg) variant details
- p.Met127Arg
- rs144390653
- ClinGen CA4350298
- ClinVar RCV003423650
- ClinVar RCV005927501
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.30
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available
- Cited in: Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. (PMID 22964825)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)