M39V (p.Met39Val) variant of ANGPTL3 (Angiopoietin-related protein 3)
M39V (p.Met39Val) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
M39V (p.Met39Val) variant details
- p.Met39Val
- gnomAD 1-62597681-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.36
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available