N38S (p.Asn38Ser) variant of EYA1 (Protein phosphatase EYA1)
N38S (p.Asn38Ser) 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; Inborn genetic diseases. 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.
N38S (p.Asn38Ser) variant details
- p.Asn38Ser
- rs750274491
- ClinGen CA4779924
- NCI-TCGA Cosmic COSV5816
- cosmic curated COSV58160
- Uncertain significance
- Melnick-Fraser syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.14
- MetaLR 0.32
- MetaSVM -0.62
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Melnick-Fraser syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available