R69G (p.Arg69Gly) variant of TERF2 (Q15554)
R69G (p.Arg69Gly) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R69G (p.Arg69Gly) variant details
- p.Arg69Gly
- TOPMed rs909960303
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.18
- MetaLR 0.19
- MetaSVM -0.55
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 5.1e-06)
- Structural context available