R20T (p.Arg20Thr) variant of MERTK (Tyrosine-protein kinase Mer)
R20T (p.Arg20Thr) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R20T (p.Arg20Thr) variant details
- p.Arg20Thr
- rs552509122
- ClinGen CA1830951
- ClinVar RCV001974722
- 1000Genomes rs552509122
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.38
- MetaLR 0.15
- MetaSVM -0.99
- CADD 5.34
- PolyPhen-2 0.00
- SIFT 0.74
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs35898499)
- UniProt: Uncertain significance (in dbSNP:rs35898499)
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available