A18V (p.Ala18Val) variant of SUZ12 (Polycomb protein SUZ12)
A18V (p.Ala18Val) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- 1000Genomes rs531045136
- ExAC rs531045136
- TOPMed rs531045136
- gnomAD rs531045136
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.18
- MetaLR 0.25
- MetaSVM -0.75
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the HGDP:BURUSHO population (allele frequency 0.062)
- Structural context available