I24V (p.Ile24Val) variant of SHMT2 (P34897)
I24V (p.Ile24Val) 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 0.29 / 1. The record also includes published literature and structural context.
I24V (p.Ile24Val) variant details
- p.Ile24Val
- rs2037284991
- ClinGen CA385468782
- ClinVar RCV002992850
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.08
- MetaLR 0.03
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.42
- MutPred 0.38
- 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)