T48I (p.Thr48Ile) variant of MERTK (Tyrosine-protein kinase Mer)
T48I (p.Thr48Ile) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- gnomAD 2-111929201-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.10
- MetaLR 0.17
- MetaSVM -0.97
- CADD 0.40
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available