P5R (p.Pro5Arg) variant of MERTK (Tyrosine-protein kinase Mer)
P5R (p.Pro5Arg) 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 0.35 / 1. The record also includes structural context.
P5R (p.Pro5Arg) variant details
- p.Pro5Arg
- rs766821604
- ClinGen CA348232511
- ClinVar RCV003030645
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.17
- MetaLR 0.13
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.24
- MutPred 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available