R82L (p.Arg82Leu) variant of SHMT2 (P34897)
R82L (p.Arg82Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R82L (p.Arg82Leu) variant details
- p.Arg82Leu
- rs11557163
- ClinGen CA385469850
- ClinVar RCV002292861
- ClinVar RCV004047622
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.46
- CADD 28.90
- PolyPhen-2 0.81
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00027)
- 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)