L142F (p.Leu142Phe) variant of ABCC6 (O95255)
L142F (p.Leu142Phe) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L142F (p.Leu142Phe) variant details
- p.Leu142Phe
- gnomAD rs1377884821
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.29
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0011)
- Structural context available