L13Q (p.Leu13Gln) variant of EYA1 (Protein phosphatase EYA1)
L13Q (p.Leu13Gln) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Melnick-Fraser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L13Q (p.Leu13Gln) variant details
- p.Leu13Gln
- ExAC rs768783796
- gnomAD rs768783796
- Likely benign
- Melnick-Fraser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.27
- MetaLR 0.25
- MetaSVM -0.63
- CADD 27.20
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Likely benign (Melnick-Fraser syndrome)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available