Y40F (p.Tyr40Phe) variant of SETD5 (Q9C0A6)
Y40F (p.Tyr40Phe) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Y40F (p.Tyr40Phe) variant details
- p.Tyr40Phe
- ExAC rs747266462
- gnomAD rs747266462
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.42
- MetaLR 0.81
- MetaSVM 0.70
- CADD 25.00
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available