T47I (p.Thr47Ile) variant of RECQL4 (ATP-dependent DNA helicase Q4)
T47I (p.Thr47Ile) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
T47I (p.Thr47Ile) variant details
- p.Thr47Ile
- gnomAD rs1229615549
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 7.15
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available