E15K (p.Glu15Lys) variant of SOX9 (Transcription factor SOX-9)
E15K (p.Glu15Lys) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- ExAC rs772903403
- gnomAD rs772903403
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.60
- MetaLR 0.88
- MetaSVM 0.91
- CADD 24.10
- PolyPhen-2 0.06
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available