T48P (p.Thr48Pro) variant of MERTK (Tyrosine-protein kinase Mer)
T48P (p.Thr48Pro) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
T48P (p.Thr48Pro) variant details
- p.Thr48Pro
- Ensembl rs1684622745
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.13
- MetaLR 0.20
- MetaSVM -0.97
- CADD 0.30
- PolyPhen-2 0.02
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available