C53F (p.Cys53Phe) variant of SETD5 (Q9C0A6)
C53F (p.Cys53Phe) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
C53F (p.Cys53Phe) variant details
- p.Cys53Phe
- ExAC rs755840233
- gnomAD rs755840233
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.36
- MetaLR 0.46
- MetaSVM -0.40
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available