A33V (p.Ala33Val) variant of SUZ12 (Polycomb protein SUZ12)
A33V (p.Ala33Val) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs997333005
- ClinGen CA289421304
- cosmic curated COSV10589
- ClinVar RCV003992990
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.31
- MetaLR 0.29
- MetaSVM -0.60
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.64
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.0004)
- Structural context available