T48T (p.Thr48Thr) variant of MERTK (Tyrosine-protein kinase Mer)
T48T (p.Thr48Thr) in MERTK (Tyrosine-protein kinase Mer) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T48T (p.Thr48Thr) variant details
- p.Thr48Thr
- rs547764575
- gnomAD 2-111929202-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0827
- CADD 0.30
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available
- Literature evidence available