P46L (p.Pro46Leu) variant of SOX10 (Transcription factor SOX-10)
P46L (p.Pro46Leu) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P46L (p.Pro46Leu) variant details
- p.Pro46Leu
- rs1447194601
- gnomAD rs1447194601
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.24
- CADD 22.60
- PolyPhen-2 0.14
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available