G116R (p.Gly116Arg) variant of TERF2 (Q15554)
G116R (p.Gly116Arg) in TERF2 (Q15554) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
G116R (p.Gly116Arg) variant details
- p.Gly116Arg
- gnomAD rs1389007118
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.04
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.05
- CADD 21.10
- PolyPhen-2 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available