F54L (p.Phe54Leu) variant of ABCC6 (O95255)
F54L (p.Phe54Leu) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
F54L (p.Phe54Leu) variant details
- p.Phe54Leu
- ESP rs374115365
- TOPMed rs374115365
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.09
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available