G9S (p.Gly9Ser) variant of TERF2 (Q15554)
G9S (p.Gly9Ser) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G9S (p.Gly9Ser) variant details
- p.Gly9Ser
- TOPMed rs903878683
- gnomAD rs903878683
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the REMAINING population (allele frequency 2e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.481