L505R (p.Leu505Arg) variant of EYA1 (Protein phosphatase EYA1)
L505R (p.Leu505Arg) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Branchiootorenal syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
L505R (p.Leu505Arg) variant details
- p.Leu505Arg
- rs121909201
- ClinGen CA254276
- ClinVar RCV000008403
- UniProt VAR 005204
- Pathogenic
- Branchiootorenal syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.99
- MetaLR 0.75
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Branchiootorenal syndrome 1)
- EBI: Pathogenic (in BOR1)
- UniProt: Pathogenic (in BOR1)
- Structural context available
- Cited in: Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR)… (PMID 9361030)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)