N2K (p.Asn2Lys) variant of SOX9 (Transcription factor SOX-9)
N2K (p.Asn2Lys) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
N2K (p.Asn2Lys) variant details
- p.Asn2Lys
- gnomAD rs1479987082
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.75
- MetaLR 0.91
- MetaSVM 0.90
- CADD 27.90
- PolyPhen-2 0.59
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available