R151P (p.Arg151Pro) variant of SOX10 (Transcription factor SOX-10)
R151P (p.Arg151Pro) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Waardenburg syndrome type 4C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
R151P (p.Arg151Pro) variant details
- p.Arg151Pro
- rs1373797370
- ClinGen CA411498114
- ClinVar RCV000660282
- gnomAD rs1373797370
- Likely pathogenic
- Waardenburg syndrome type 4C
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.65
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Waardenburg syndrome type 4C)
- EBI: Likely pathogenic (found in a patient with Kallmann syndrome)
- UniProt: Likely pathogenic (found in a patient with Kallmann syndrome)
- Structural context available