Q24E (p.Gln24Glu) variant of TERF2 (Q15554)
Q24E (p.Gln24Glu) in TERF2 (Q15554) is a missense 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.
Q24E (p.Gln24Glu) variant details
- p.Gln24Glu
- gnomAD 16-69357027-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 9.10
- Population evidence available
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.778
- Literature evidence available