V6A (p.Val6Ala) variant of PCCA (P05165)
V6A (p.Val6Ala) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- rs1431176397
- ClinGen CA388692610
- ClinVar RCV002850205
- TOPMed rs1431176397
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 5.27
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)