P68S (p.Pro68Ser) variant of ABCA1 (O95477)
P68S (p.Pro68Ser) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
P68S (p.Pro68Ser) variant details
- p.Pro68Ser
- cosmic curated COSV10531
- Ensembl rs928929671
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.83
- MetaLR 0.99
- MetaSVM 0.97
- CADD 24.40
- PolyPhen-2 0.25
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available