G6E (p.Gly6Glu) variant of TERF2 (Q15554)
G6E (p.Gly6Glu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G6E (p.Gly6Glu) variant details
- p.Gly6Glu
- TOPMed rs936749110
- gnomAD rs936749110
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 4e-06)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score 0.192