S49R (p.Ser49Arg) variant of APOA1 (Apolipoprotein A-I)
S49R (p.Ser49Arg) in APOA1 (Apolipoprotein A-I) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S49R (p.Ser49Arg) variant details
- p.Ser49Arg
- ExAC rs780794079
- gnomAD rs780794079
- cosmic curated COSV10957
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.21
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available