V35M (p.Val35Met) variant of APOA1 (Apolipoprotein A-I)
V35M (p.Val35Met) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. 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.
V35M (p.Val35Met) variant details
- p.Val35Met
- rs1476964300
- ClinGen CA382720971
- ClinVar RCV001996517
- ClinVar RCV002389011
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.05
- AlphaMissense 0.29
- MetaLR 0.18
- MetaSVM -0.94
- CADD 11.10
- PolyPhen-2 0.22
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available