R89W (p.Arg89Trp) variant of TERF2 (Q15554)
R89W (p.Arg89Trp) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R89W (p.Arg89Trp) variant details
- p.Arg89Trp
- gnomAD rs1458501612
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.16
- MetaLR 0.12
- MetaSVM -0.83
- CADD 26.10
- PolyPhen-2 0.90
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available