D58N (p.Asp58Asn) variant of EYA1 (Protein phosphatase EYA1)
D58N (p.Asp58Asn) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchiootorenal syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D58N (p.Asp58Asn) variant details
- p.Asp58Asn
- rs756885537
- NCI-TCGA Cosmic COSV5816
- cosmic curated COSV58166
- ExAC rs756885537
- Uncertain significance
- Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchiootorenal syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.14
- MetaLR 0.40
- MetaSVM -0.51
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchioot)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available