A34G (p.Ala34Gly) variant of SUZ12 (Polycomb protein SUZ12)
A34G (p.Ala34Gly) in SUZ12 (Polycomb protein SUZ12) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A34G (p.Ala34Gly) variant details
- p.Ala34Gly
- rs561217691
- ClinGen CA8489450
- ClinVar RCV003288686
- 1000Genomes rs561217691
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.05
- MetaLR 0.19
- MetaSVM -0.97
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.27
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:HAN population (allele frequency 0.015)
- 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)