H55N (p.His55Asn) variant of MERTK (Tyrosine-protein kinase Mer)
H55N (p.His55Asn) 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.
H55N (p.His55Asn) variant details
- p.His55Asn
- rs754922274
- ClinGen CA348226053
- ClinVar RCV001356697
- ExAC rs754922274
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- AlphaMissense 0.08
- MetaLR 0.20
- MetaSVM -0.91
- PolyPhen-2 0.82
- SIFT 0.02
- MutPred 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available