N38D (p.Asn38Asp) variant of EYA1 (Protein phosphatase EYA1)
N38D (p.Asn38Asp) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Melnick-Fraser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N38D (p.Asn38Asp) variant details
- p.Asn38Asp
- rs765646278
- ClinGen CA4779925
- ClinVar RCV001547552
- ClinVar RCV002032571
- Likely benign
- not provided; Melnick-Fraser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.13
- MetaLR 0.37
- MetaSVM -0.32
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Likely benign (not provided; Melnick-Fraser syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available