G2V (p.Gly2Val) variant of MERTK (Tyrosine-protein kinase Mer)
G2V (p.Gly2Val) 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 0.23 / 1. The record also includes population frequency data and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- rs1424907891
- ClinGen CA348232464
- ClinVar RCV002000598
- gnomAD rs1424907891
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.16
- MetaLR 0.19
- MetaSVM -0.83
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available