R96P (p.Arg96Pro) variant of TERF2 (Q15554)
R96P (p.Arg96Pro) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R96P (p.Arg96Pro) variant details
- p.Arg96Pro
- ExAC rs762744055
- TOPMed rs762744055
- gnomAD rs762744055
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.54
- MetaLR 0.25
- MetaSVM -0.67
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available