H55Y (p.His55Tyr) variant of MERTK (Tyrosine-protein kinase Mer)
H55Y (p.His55Tyr) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
H55Y (p.His55Tyr) variant details
- p.His55Tyr
- rs754922274
- NCI-TCGA Cosmic COSV9977
- cosmic curated COSV99774
- ExAC rs754922274
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.12
- AlphaMissense 0.08
- MetaLR 0.20
- MetaSVM -0.91
- CADD 6.77
- PolyPhen-2 0.82
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available