W327R (p.Trp327Arg) variant of EYA1 (Protein phosphatase EYA1)
W327R (p.Trp327Arg) 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 Branchiootorenal syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
W327R (p.Trp327Arg) variant details
- p.Trp327Arg
- rs2128948223
- ClinGen CA371468374
- ClinVar RCV002272754
- Ensembl rs2128948223
- Likely pathogenic
- Branchiootorenal syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Branchiootorenal syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)