S57N (p.Ser57Asn) variant of MERTK (Tyrosine-protein kinase Mer)
S57N (p.Ser57Asn) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S57N (p.Ser57Asn) variant details
- p.Ser57Asn
- rs1051108169
- ClinGen CA53560988
- ClinVar RCV001990459
- TOPMed rs1051108169
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.07
- MetaLR 0.21
- MetaSVM -0.95
- CADD 3.03
- PolyPhen-2 0.03
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available