L79F (p.Leu79Phe) variant of ABCC6 (O95255)
L79F (p.Leu79Phe) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L79F (p.Leu79Phe) variant details
- p.Leu79Phe
- ExAC rs757533434
- gnomAD rs757533434
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.19
- CADD 23.60
- PolyPhen-2 0.31
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available