G9V (p.Gly9Val) variant of TERF2 (Q15554)
G9V (p.Gly9Val) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- 1000Genomes rs772945584
- ExAC rs772945584
- TOPMed rs772945584
- gnomAD rs772945584
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the HGDP:OROQEN population (allele frequency 0.25)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.481