A21E (p.Ala21Glu) variant of TERF2 (Q15554)
A21E (p.Ala21Glu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- TOPMed rs1167733436
- gnomAD rs1167733436
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 16.30
- PolyPhen-2 0.17
- SIFT 0.50
- Population evidence available
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.123