A31T (p.Ala31Thr) variant of SOX9 (Transcription factor SOX-9)
A31T (p.Ala31Thr) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- TOPMed rs1257248748
- gnomAD rs1257248748
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.37
- MetaLR 0.44
- MetaSVM -0.16
- CADD 25.40
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available