Y40C (p.Tyr40Cys) variant of SETD5 (Q9C0A6)
Y40C (p.Tyr40Cys) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y40C (p.Tyr40Cys) variant details
- p.Tyr40Cys
- ExAC rs747266462
- gnomAD rs747266462
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.62
- MetaLR 0.87
- MetaSVM 0.89
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available