P31A (p.Pro31Ala) variant of ANGPTL3 (Angiopoietin-related protein 3)
P31A (p.Pro31Ala) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P31A (p.Pro31Ala) variant details
- p.Pro31Ala
- gnomAD 1-62597657-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.05
- CADD 15.00
- PolyPhen-2 0.14
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available