Q120E (p.Gln120Glu) variant of TERF2 (Q15554)
Q120E (p.Gln120Glu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q120E (p.Gln120Glu) variant details
- p.Gln120Glu
- gnomAD rs1367106356
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.10
- AlphaMissense 0.07
- MetaLR 0.08
- MetaSVM -1.04
- CADD 22.30
- PolyPhen-2 0.99
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available