D5A (p.Asp5Ala) variant of SOX9 (Transcription factor SOX-9)
D5A (p.Asp5Ala) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
D5A (p.Asp5Ala) variant details
- p.Asp5Ala
- Ensembl rs2143236163
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.81
- MetaLR 0.96
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available