P49L (p.Pro49Leu) variant of MERTK (Tyrosine-protein kinase Mer)
P49L (p.Pro49Leu) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- rs567766808
- ClinGen CA1830987
- cosmic curated COSV54928
- ClinVar RCV001211541
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.20
- MetaLR 0.23
- MetaSVM -0.78
- CADD 16.70
- PolyPhen-2 0.17
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)