H6N (p.His6Asn) variant of SUZ12 (Polycomb protein SUZ12)
H6N (p.His6Asn) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
H6N (p.His6Asn) variant details
- p.His6Asn
- gnomAD 17-31937262-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.17
- MetaLR 0.33
- MetaSVM -0.39
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available