P9L (p.Pro9Leu) variant of EYA1 (Protein phosphatase EYA1)
P9L (p.Pro9Leu) 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; Branchiootorenal syndrome 1; Branchiootic syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- rs766713665
- ClinGen CA4779942
- NCI-TCGA Cosmic COSV5816
- cosmic curated COSV58165
- Conflicting interpretations
- Melnick-Fraser syndrome; Branchiootorenal syndrome 1; Branchiootic syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.54
- MetaLR 0.90
- MetaSVM 0.99
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Melnick-Fraser syndrome; Branchiootorenal syndrome 1; Branchioot)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)