G33C (p.Gly33Cys) variant of TERF2 (Q15554)
G33C (p.Gly33Cys) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G33C (p.Gly33Cys) variant details
- p.Gly33Cys
- TOPMed rs1482347193
- gnomAD rs1482347193
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.834