G13A (p.Gly13Ala) variant of TERF2 (Q15554)
G13A (p.Gly13Ala) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- ExAC rs771614905
- TOPMed rs771614905
- gnomAD rs771614905
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.7e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.0717