L28V (p.Leu28Val) variant of PCCB (P05166)
L28V (p.Leu28Val) in PCCB (P05166) 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; Propionic acidemia. 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.
L28V (p.Leu28Val) variant details
- p.Leu28Val
- rs141137691
- ClinGen CA2631569
- ClinVar RCV000405424
- ClinVar RCV001795957
- Uncertain significance
- not provided; Inborn genetic diseases; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 8.92
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- 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)