Q24* (p.Gln24Ter) variant of TERF2 (Q15554)
Q24* (p.Gln24Ter) in TERF2 (Q15554) is a protein-truncating 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, published literature, and structural context.
Q24* (p.Gln24Ter) variant details
- p.Gln24Ter
- gnomAD 16-69357027-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 9.57
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.778
- Literature evidence available