A3G (p.Ala3Gly) variant of TERF2 (Q15554)
A3G (p.Ala3Gly) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- gnomAD rs1414298433
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.522