L141P (p.Leu141Pro) variant of SOX10 (Transcription factor SOX-10)
L141P (p.Leu141Pro) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
L141P (p.Leu141Pro) variant details
- p.Leu141Pro
- rs2145776911
- ClinGen CA411500012
- ClinVar RCV001775031
- Ensembl rs2145776911
- Likely pathogenic
- Waardenburg syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- AlphaMissense 1.00
- MetaLR 0.46
- MetaSVM 0.07
- PolyPhen-2 0.94
- SIFT 0.01
- EVE 0.94
- ClinVar: Likely pathogenic (Waardenburg syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Waardenburg Syndrome Type I. (PMID 20301703)
- Cited in: American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of… (PMID 24651602)