A2P (p.Ala2Pro) variant of PCCA (P05165)
A2P (p.Ala2Pro) in PCCA (P05165) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- rs760710987
- ClinGen CA7033056
- ClinVar RCV002600030
- ClinVar RCV002615746
- Uncertain significance
- Inborn genetic diseases; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American 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)