Y45F (p.Tyr45Phe) variant of SETD5 (Q9C0A6)
Y45F (p.Tyr45Phe) 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.
Y45F (p.Tyr45Phe) variant details
- p.Tyr45Phe
- gnomAD rs1448467228
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.33
- MetaLR 0.78
- MetaSVM 0.51
- CADD 23.10
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available