A4T (p.Ala4Thr) variant of MERTK (Tyrosine-protein kinase Mer)
A4T (p.Ala4Thr) 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 0.36 / 1. The record also includes structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- rs1326403828
- ClinGen CA348232491
- ClinVar RCV003020755
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- AlphaMissense 0.16
- MetaLR 0.17
- MetaSVM -0.98
- PolyPhen-2 0.01
- SIFT 0.06
- MutPred 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available