S52C (p.Ser52Cys) variant of MERTK (Tyrosine-protein kinase Mer)
S52C (p.Ser52Cys) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S52C (p.Ser52Cys) variant details
- p.Ser52Cys
- gnomAD rs1426789116
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.23
- MetaLR 0.22
- MetaSVM -0.82
- CADD 14.70
- PolyPhen-2 0.34
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available