T79A (p.Thr79Ala) variant of EYA1 (Protein phosphatase EYA1)
T79A (p.Thr79Ala) 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 not provided; Melnick-Fraser syndrome; Branchiootic syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
T79A (p.Thr79Ala) variant details
- p.Thr79Ala
- rs1554550645
- ClinGen CA371468949
- ClinVar RCV000522348
- ClinVar RCV002481735
- Uncertain significance
- not provided; Melnick-Fraser syndrome; Branchiootic syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.10
- MetaLR 0.02
- MetaSVM -0.97
- CADD 4.85
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (not provided; Melnick-Fraser syndrome; Branchiootic syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)