V139M (p.Val139Met) variant of TERF2 (Q15554)
V139M (p.Val139Met) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V139M (p.Val139Met) variant details
- p.Val139Met
- ExAC rs747511003
- TOPMed rs747511003
- gnomAD rs747511003
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.05
- AlphaMissense 0.19
- MetaLR 0.05
- MetaSVM -1.12
- CADD 23.20
- PolyPhen-2 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available