T100N (p.Thr100Asn) variant of EYA1 (Protein phosphatase EYA1)
T100N (p.Thr100Asn) 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 Branchiootic syndrome 1; Otofaciocervical syndrome 1; EYA1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T100N (p.Thr100Asn) variant details
- p.Thr100Asn
- rs373501480
- ClinGen CA184017
- ClinVar RCV000156019
- ClinVar RCV000281370
- Conflicting interpretations
- Branchiootic syndrome 1; Otofaciocervical syndrome 1; EYA1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.28
- MetaLR 0.55
- MetaSVM -0.10
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Branchiootic syndrome 1; Otofaciocervical syndrome 1; EYA1-relat)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)