G79D (p.Gly79Asp) variant of TERF2 (Q15554)
G79D (p.Gly79Asp) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G79D (p.Gly79Asp) variant details
- p.Gly79Asp
- TOPMed rs2014177100
- gnomAD rs2014177100
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.09
- CADD 22.80
- PolyPhen-2 0.35
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 6.6e-06)
- Structural context available