A56T (p.Ala56Thr) variant of MERTK (Tyrosine-protein kinase Mer)
A56T (p.Ala56Thr) 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 0.12 / 1. The record also includes population frequency data and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- rs868686893
- ClinGen CA53560980
- cosmic curated COSV54935
- ClinVar RCV000997191
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -0.94
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- 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