K30N (p.Lys30Asn) variant of MERTK (Tyrosine-protein kinase Mer)
K30N (p.Lys30Asn) 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 0.26 / 1. The record also includes population frequency data and structural context.
K30N (p.Lys30Asn) variant details
- p.Lys30Asn
- rs1308272767
- ClinGen CA348225903
- ClinVar RCV002816116
- TOPMed rs1308272767
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.08
- MetaLR 0.19
- MetaSVM -0.97
- CADD 14.10
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available