H55Q (p.His55Gln) variant of MERTK (Tyrosine-protein kinase Mer)
H55Q (p.His55Gln) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
H55Q (p.His55Gln) variant details
- p.His55Gln
- ExAC rs781297101
- TOPMed rs781297101
- gnomAD rs781297101
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.21
- MetaLR 0.21
- MetaSVM -0.84
- CADD 2.09
- PolyPhen-2 0.41
- SIFT 0.39
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available