E41Q (p.Glu41Gln) variant of EYA1 (Protein phosphatase EYA1)
E41Q (p.Glu41Gln) 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 Melnick-Fraser syndrome; Renal hypoplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E41Q (p.Glu41Gln) variant details
- p.Glu41Gln
- rs561111097
- ClinGen CA4779922
- ClinVar RCV000234887
- ClinVar RCV002518414
- Conflicting interpretations
- Melnick-Fraser syndrome; Renal hypoplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.37
- MetaLR 0.61
- MetaSVM 0.05
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Melnick-Fraser syndrome; Renal hypoplasia)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available