V15A (p.Val15Ala) variant of SOX10 (Transcription factor SOX-10)
V15A (p.Val15Ala) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V15A (p.Val15Ala) variant details
- p.Val15Ala
- rs1555939564
- ClinGen CA658799549
- ClinVar RCV000626403
- ClinVar RCV001729642
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.18
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available