M120V (p.Met120Val) variant of POGZ (Q7Z3K3)
M120V (p.Met120Val) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Intellectual disability-microcephaly-strabismus-behavioral abnorma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
M120V (p.Met120Val) variant details
- p.Met120Val
- rs377068982
- ClinGen CA1091659
- ClinVar RCV003135075
- ClinVar RCV003410271
- Conflicting interpretations
- not provided; Intellectual disability-microcephaly-strabismus-behavioral abnorma
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 8.52
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Intellectual disability-microcephaly-strabismus-be)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00077)
- 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)