L14F (p.Leu14Phe) variant of PCCB (P05166)
L14F (p.Leu14Phe) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- rs1215705998
- ClinGen CA354737875
- ClinVar RCV002006211
- ClinVar RCV006367981
- Uncertain significance
- Inborn genetic diseases; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 18.50
- PolyPhen-2 0.20
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases; Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.9e-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)