P7Q (p.Pro7Gln) variant of MERTK (Tyrosine-protein kinase Mer)
P7Q (p.Pro7Gln) 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.
P7Q (p.Pro7Gln) variant details
- p.Pro7Gln
- gnomAD 2-111898755-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.09
- MetaLR 0.14
- MetaSVM -0.96
- CADD 3.39
- PolyPhen-2 0.05
- SIFT 0.57
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available