S30E (p.Ser30Glu) variant of APOA1 (Apolipoprotein A-I)
S30E (p.Ser30Glu) in APOA1 (Apolipoprotein A-I) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S30E (p.Ser30Glu) variant details
- p.Ser30Glu
- gnomAD 11-116837114-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available