L580R (p.Leu580Arg) variant of EYA1 (Protein phosphatase EYA1)
L580R (p.Leu580Arg) 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 Melnick-Fraser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
L580R (p.Leu580Arg) variant details
- p.Leu580Arg
- rs1585717154
- ClinGen CA371273662
- ClinVar RCV000798562
- Ensembl rs1585717154
- Likely pathogenic
- Melnick-Fraser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Melnick-Fraser syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available