P21S (p.Pro21Ser) variant of PCCA (P05165)
P21S (p.Pro21Ser) 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; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- rs369743452
- ClinGen CA7033071
- ClinVar RCV001581500
- ClinVar RCV001827513
- Uncertain significance
- Propionic acidemia; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 8.93
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (Propionic acidemia; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)