G45R (p.Gly45Arg) variant of TERF2 (Q15554)
G45R (p.Gly45Arg) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- gnomAD 16-69357003-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 8.65
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.318
- Literature evidence available