V16F (p.Val16Phe) variant of PCCB (P05166)
V16F (p.Val16Phe) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Propionic acidemia; Inborn genetic diseases. 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.
V16F (p.Val16Phe) variant details
- p.Val16Phe
- rs780842004
- ClinGen CA2631556
- ClinVar RCV000812873
- ClinVar RCV005392431
- Uncertain significance
- Propionic acidemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Propionic acidemia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0001)
- 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)