T48I (p.Thr48Ile) variant of SETD5 (Q9C0A6)
T48I (p.Thr48Ile) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- TOPMed rs1406368959
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.39
- MetaLR 0.66
- MetaSVM 0.37
- CADD 23.00
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available