R26K (p.Arg26Lys) variant of TERF2 (Q15554)
R26K (p.Arg26Lys) in TERF2 (Q15554) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R26K (p.Arg26Lys) variant details
- p.Arg26Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 22.20
- PolyPhen-2 0.05
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.287