A28V (p.Ala28Val) variant of SOX10 (Transcription factor SOX-10)
A28V (p.Ala28Val) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs1932477803
- ClinGen CA411502166
- ClinVar RCV001970537
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.18
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available