V10M (p.Val10Met) variant of APOA1 (Apolipoprotein A-I)
V10M (p.Val10Met) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Familial visceral amyloidosis, Ostertag type; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V10M (p.Val10Met) variant details
- p.Val10Met
- rs750125257
- ClinGen CA6289929
- NCI-TCGA Cosmic COSV5263
- cosmic curated COSV52635
- Conflicting interpretations
- Cardiovascular phenotype; Familial visceral amyloidosis, Ostertag type; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.13
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Familial visceral amyloidosis, Osterta)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 7.4e-05)
- Structural context available
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)