R67W (p.Arg67Trp) variant of TERF2 (Q15554)
R67W (p.Arg67Trp) 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.
R67W (p.Arg67Trp) variant details
- p.Arg67Trp
- gnomAD rs1181871917
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -1.04
- CADD 25.60
- PolyPhen-2 0.81
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.2e-05)
- Structural context available