L4P (p.Leu4Pro) variant of TNFRSF13B (O14836)
L4P (p.Leu4Pro) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and published literature.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- rs2087749301
- ClinGen CA398520674
- ClinVar RCV001193830
- ClinVar RCV005286325
- Uncertain significance
- Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.40
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)