S37L (p.Ser37Leu) variant of SUZ12 (Polycomb protein SUZ12)
S37L (p.Ser37Leu) in SUZ12 (Polycomb protein SUZ12) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S37L (p.Ser37Leu) variant details
- p.Ser37Leu
- rs1316496668
- ClinGen CA399030675
- cosmic curated COSV59504
- ClinVar RCV003301826
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.25
- MetaLR 0.38
- MetaSVM -0.63
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)