T14I (p.Thr14Ile) variant of SETD5 (Q9C0A6)
T14I (p.Thr14Ile) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- TOPMed rs1175255050
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 21.00
- Most common in the REMAINING population (allele frequency 2.4e-05)
- Structural context available