S60P (p.Ser60Pro) variant of APOA1 (Apolipoprotein A-I)
S60P (p.Ser60Pro) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S60P (p.Ser60Pro) variant details
- p.Ser60Pro
- ESP rs199759119
- ExAC rs199759119
- TOPMed rs199759119
- gnomAD rs199759119
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.75
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available