V45M (p.Val45Met) variant of APOA1 (Apolipoprotein A-I)
V45M (p.Val45Met) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
V45M (p.Val45Met) variant details
- p.Val45Met
- rs2134232994
- ClinGen CA382719189
- ClinVar RCV001898097
- Ensembl rs2134232994
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.17
- MetaLR 0.08
- MetaSVM -1.07
- PolyPhen-2 0.09
- SIFT 0.03
- EVE 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available