A26S (p.Ala26Ser) variant of SHMT2 (P34897)
A26S (p.Ala26Ser) in SHMT2 (P34897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- rs112251410
- ClinGen CA385468810
- ClinVar RCV004451196
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.06
- PolyPhen-2 0.01
- SIFT 0.08
- MutPred 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)