R67G (p.Arg67Gly) variant of TERF2 (Q15554)
R67G (p.Arg67Gly) in TERF2 (Q15554) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R67G (p.Arg67Gly) variant details
- p.Arg67Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.07
- CADD 23.20
- PolyPhen-2 0.44
- SIFT 0.27
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available