G86R (p.Gly86Arg) variant of TERF2 (Q15554)
G86R (p.Gly86Arg) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G86R (p.Gly86Arg) variant details
- p.Gly86Arg
- ExAC rs754332485
- gnomAD rs754332485
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.12
- MetaLR 0.12
- MetaSVM -0.86
- CADD 26.40
- PolyPhen-2 0.89
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available