S12L (p.Ser12Leu) variant of SETD5 (Q9C0A6)
S12L (p.Ser12Leu) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S12L (p.Ser12Leu) variant details
- p.Ser12Leu
- rs201510004
- ClinGen CA2238797
- ClinVar RCV002663110
- ClinVar RCV006377428
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.31
- MetaLR 0.53
- MetaSVM -0.27
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-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)