L580F (p.Leu580Phe) variant of EYA1 (Protein phosphatase EYA1)
L580F (p.Leu580Phe) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Branchiootorenal syndrome 1. The record also includes structural context.
L580F (p.Leu580Phe) variant details
- p.Leu580Phe
- Ensembl rs1585717169
- Likely pathogenic
- Branchiootorenal syndrome 1
- Missense
- ClinVar: Likely pathogenic (Branchiootorenal syndrome 1)
- UniProt: Likely pathogenic
- Structural context available