F15L (p.Phe15Leu) variant of PAX6 (Paired box protein Pax-6)
F15L (p.Phe15Leu) in PAX6 (Paired box protein Pax-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F15L (p.Phe15Leu) variant details
- p.Phe15Leu
- gnomAD rs1486857158
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 24.80
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.16