A68G (p.Ala68Gly) variant of EYA1 (Protein phosphatase EYA1)
A68G (p.Ala68Gly) 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 Otofaciocervical syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
A68G (p.Ala68Gly) variant details
- p.Ala68Gly
- rs1822657436
- ClinGen CA371469089
- ClinVar RCV001196644
- Ensembl rs1822657436
- Uncertain significance
- Otofaciocervical syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.12
- MetaLR 0.12
- MetaSVM -0.99
- PolyPhen-2 0.37
- SIFT 0.18
- MutPred 0.11
- ClinVar: Uncertain significance (Otofaciocervical syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available