R63G (p.Arg63Gly) variant of TERF2 (Q15554)
R63G (p.Arg63Gly) in TERF2 (Q15554) is a missense change. 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.
R63G (p.Arg63Gly) variant details
- p.Arg63Gly
- Ensembl rs2014180654
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -0.99
- CADD 25.90
- PolyPhen-2 0.52
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available