R18P (p.Arg18Pro) variant of TERF2 (Q15554)
R18P (p.Arg18Pro) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R18P (p.Arg18Pro) variant details
- p.Arg18Pro
- ExAC rs761598294
- gnomAD rs761598294
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- CADD 28.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.3e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score 0.282