P62L (p.Pro62Leu) variant of ABCA1 (O95477)
P62L (p.Pro62Leu) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
P62L (p.Pro62Leu) variant details
- p.Pro62Leu
- cosmic curated COSV10442
- TOPMed rs907671851
- gnomAD rs907671851
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.93
- MetaLR 0.95
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Amish population (allele frequency 0.0022)
- Structural context available