P33S (p.Pro33Ser) variant of MERTK (Tyrosine-protein kinase Mer)
P33S (p.Pro33Ser) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- ExAC rs773279871
- TOPMed rs773279871
- gnomAD rs773279871
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.09
- MetaLR 0.16
- MetaSVM -0.95
- CADD 12.20
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available