S50L (p.Ser50Leu) variant of POGZ (Q7Z3K3)
S50L (p.Ser50Leu) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S50L (p.Ser50Leu) variant details
- p.Ser50Leu
- rs368370239
- ClinGen CA1091707
- ClinVar RCV003204457
- ESP rs368370239
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.41
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)