S52F (p.Ser52Phe) variant of MERTK (Tyrosine-protein kinase Mer)
S52F (p.Ser52Phe) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S52F (p.Ser52Phe) variant details
- p.Ser52Phe
- cosmic curated COSV10733
- gnomAD rs1426789116
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.12
- MetaLR 0.19
- MetaSVM -0.91
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available