G39D (p.Gly39Asp) variant of EYA1 (Protein phosphatase EYA1)
G39D (p.Gly39Asp) 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 Melnick-Fraser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
G39D (p.Gly39Asp) variant details
- p.Gly39Asp
- rs267601985
- NCI-TCGA Cosmic COSV5816
- cosmic curated COSV58168
- ClinVar RCV006588965
- Uncertain significance
- Melnick-Fraser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 0.33
- MetaLR 0.41
- MetaSVM -0.25
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.41
- ClinVar: Uncertain significance (Melnick-Fraser syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available