P33Q (p.Pro33Gln) variant of MERTK (Tyrosine-protein kinase Mer)
P33Q (p.Pro33Gln) 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 0.12 / 1. The record also includes population frequency data and structural context.
P33Q (p.Pro33Gln) variant details
- p.Pro33Gln
- ESP rs144751432
- ExAC rs144751432
- TOPMed rs144751432
- gnomAD rs144751432
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.12
- MetaLR 0.12
- MetaSVM -1.02
- CADD 1.03
- PolyPhen-2 0.00
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available