S28A (p.Ser28Ala) variant of SUZ12 (Polycomb protein SUZ12)
S28A (p.Ser28Ala) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S28A (p.Ser28Ala) variant details
- p.Ser28Ala
- gnomAD rs1195824839
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.12
- MetaLR 0.37
- MetaSVM -0.50
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.71
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available