H6P (p.His6Pro) variant of SUZ12 (Polycomb protein SUZ12)
H6P (p.His6Pro) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H6P (p.His6Pro) variant details
- p.His6Pro
- gnomAD 17-31937263-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.43
- MetaLR 0.31
- MetaSVM -0.40
- CADD 24.40
- PolyPhen-2 0.13
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.8e-07)
- Structural context available
- Literature evidence available