V17M (p.Val17Met) variant of TERF2 (Q15554)
V17M (p.Val17Met) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- gnomAD 16-69357054-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 9.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.136
- Literature evidence available