N2S (p.Asn2Ser) variant of SOX9 (Transcription factor SOX-9)
N2S (p.Asn2Ser) 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, published literature, and structural context.
N2S (p.Asn2Ser) variant details
- p.Asn2Ser
- gnomAD 17-72121396-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.67
- MetaLR 0.90
- MetaSVM 0.99
- CADD 24.20
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available