L583P (p.Leu583Pro) variant of EYA1 (Protein phosphatase EYA1)
L583P (p.Leu583Pro) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rare genetic deafness; Branchiootic syndrome 1; Branchiootorenal syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
L583P (p.Leu583Pro) variant details
- p.Leu583Pro
- rs397517920
- ClinGen CA262038
- ClinVar RCV000041392
- ClinVar RCV000763604
- Likely pathogenic
- Rare genetic deafness; Branchiootic syndrome 1; Branchiootorenal syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (Rare genetic deafness; Branchiootic syndrome 1; Branchiootorenal)
- EBI: Pathogenic (in BOR1)
- UniProt: Pathogenic (in BOR1)
- Structural context available
- Cited in: Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping… (PMID 10991693)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)