Q49E (p.Gln49Glu) variant of SETD5 (Q9C0A6)
Q49E (p.Gln49Glu) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Q49E (p.Gln49Glu) variant details
- p.Gln49Glu
- 1000Genomes rs566745416
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.47
- MetaLR 0.81
- MetaSVM 0.69
- CADD 23.90
- SIFT 0.00
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available