S35L (p.Ser35Leu) variant of POGZ (Q7Z3K3)
S35L (p.Ser35Leu) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Inborn genetic diseases; Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S35L (p.Ser35Leu) variant details
- p.Ser35Leu
- rs148488014
- ClinGen CA1091730
- cosmic curated COSV55037
- ClinVar RCV001733475
- Likely benign
- not provided; Inborn genetic diseases; Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Likely benign (not provided; Inborn genetic diseases; Intellectual disability)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- 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)