R83P (p.Arg83Pro) variant of TERF2 (Q15554)
R83P (p.Arg83Pro) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R83P (p.Arg83Pro) variant details
- p.Arg83Pro
- ExAC rs755403125
- gnomAD rs755403125
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.05
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available