H43Y (p.His43Tyr) variant of SETD5 (Q9C0A6)
H43Y (p.His43Tyr) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
H43Y (p.His43Tyr) variant details
- p.His43Tyr
- ExAC rs762017924
- gnomAD rs762017924
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.47
- MetaLR 0.80
- MetaSVM 0.69
- CADD 24.40
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available