E13K (p.Glu13Lys) variant of SOX9 (Transcription factor SOX-9)
E13K (p.Glu13Lys) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- cosmic curated COSV55423
- TOPMed rs1478425968
- gnomAD rs1478425968
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.76
- MetaLR 0.96
- MetaSVM 1.11
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available