S57I (p.Ser57Ile) variant of MERTK (Tyrosine-protein kinase Mer)
S57I (p.Ser57Ile) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S57I (p.Ser57Ile) variant details
- p.Ser57Ile
- gnomAD 2-111929228-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.05
- MetaLR 0.22
- MetaSVM -0.89
- CADD 5.22
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available