V24I (p.Val24Ile) variant of POGZ (Q7Z3K3)
V24I (p.Val24Ile) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V24I (p.Val24Ile) variant details
- p.Val24Ile
- rs144510238
- ClinGen CA1091732
- ClinVar RCV000905337
- ClinVar RCV003338857
- Benign/Likely benign
- not provided; not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 24.20
- PolyPhen-2 0.91
- SIFT 0.04
- ClinVar: Benign/Likely benign (not provided; not specified; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:LWK population (allele frequency 0.012)
- 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)