G9C (p.Gly9Cys) variant of TERF2 (Q15554)
G9C (p.Gly9Cys) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G9C (p.Gly9Cys) variant details
- p.Gly9Cys
- TOPMed rs903878683
- gnomAD rs903878683
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.481