G76R (p.Gly76Arg) variant of TERF2 (Q15554)
G76R (p.Gly76Arg) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G76R (p.Gly76Arg) variant details
- p.Gly76Arg
- gnomAD rs1324514163
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.07
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available