F137L (p.Phe137Leu) variant of ABCC6 (O95255)
F137L (p.Phe137Leu) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
F137L (p.Phe137Leu) variant details
- p.Phe137Leu
- gnomAD rs1321662708
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.05
- CADD 20.60
- PolyPhen-2 0.22
- SIFT 0.56
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available