A29G (p.Ala29Gly) variant of MERTK (Tyrosine-protein kinase Mer)
A29G (p.Ala29Gly) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A29G (p.Ala29Gly) variant details
- p.Ala29Gly
- rs1206954845
- ClinGen CA348225895
- ClinVar RCV001983923
- ClinVar RCV002592643
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.14
- MetaLR 0.17
- MetaSVM -0.96
- CADD 8.99
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)