F120L (p.Phe120Leu) variant of ABCC6 (O95255)
F120L (p.Phe120Leu) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
F120L (p.Phe120Leu) variant details
- p.Phe120Leu
- gnomAD rs1166899687
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.16
- CADD 19.90
- PolyPhen-2 0.07
- SIFT 0.46
- Most common in the REMAINING population (allele frequency 0.00049)
- Structural context available