G48W (p.Gly48Trp) variant of TERF2 (Q15554)
G48W (p.Gly48Trp) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G48W (p.Gly48Trp) variant details
- p.Gly48Trp
- Ensembl rs2014182570
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.35
- MetaLR 0.23
- MetaSVM -0.53
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.06
- Population evidence available
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.696