P89L (p.Pro89Leu) variant of EYA1 (Protein phosphatase EYA1)
P89L (p.Pro89Leu) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Melnick-Fraser syndrome; Branchiootic syndrome 1; Branchiootorenal syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
P89L (p.Pro89Leu) variant details
- p.Pro89Leu
- rs368351103
- ClinGen CA4779839
- ClinVar RCV000825756
- ClinVar RCV001869269
- Conflicting interpretations
- Melnick-Fraser syndrome; Branchiootic syndrome 1; Branchiootorenal syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.47
- MetaLR 0.74
- MetaSVM 0.32
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Melnick-Fraser syndrome; Branchiootic syndrome 1; Branchiootoren)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)