R55P (p.Arg55Pro) variant of TERF2 (Q15554)
R55P (p.Arg55Pro) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R55P (p.Arg55Pro) variant details
- p.Arg55Pro
- TOPMed rs1475971879
- gnomAD rs1475971879
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.17
- MetaLR 0.09
- MetaSVM -1.04
- CADD 23.40
- PolyPhen-2 0.95
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available