P5A (p.Pro5Ala) variant of SLC25A20 (O43772)
P5A (p.Pro5Ala) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
P5A (p.Pro5Ala) variant details
- p.Pro5Ala
- rs2083929089
- ClinGen CA352639599
- ClinVar RCV002897271
- TOPMed rs2083929089
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.06
- MetaLR 0.21
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.81
- MutPred 0.19
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- 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)