R25W (p.Arg25Trp) variant of SHMT2 (P34897)
R25W (p.Arg25Trp) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- rs117173238
- ClinGen CA6646257
- ClinVar RCV003252734
- 1000Genomes rs117173238
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.18
- CADD 24.10
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)