L43P (p.Leu43Pro) variant of BDNF (P23560)
L43P (p.Leu43Pro) in BDNF (P23560) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and published literature.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- rs2538964679
- ClinGen CA380074755
- ClinVar RCV002839678
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.22
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)