S30P (p.Ser30Pro) variant of ANGPTL3 (Angiopoietin-related protein 3)
S30P (p.Ser30Pro) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
S30P (p.Ser30Pro) variant details
- p.Ser30Pro
- gnomAD 1-62597654-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0504
- REVEL 0.02
- CADD 4.28
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available