V98L (p.Val98Leu) variant of TERF2 (Q15554)
V98L (p.Val98Leu) 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.
V98L (p.Val98Leu) variant details
- p.Val98Leu
- ExAC rs775350860
- gnomAD rs775350860
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.12
- MetaLR 0.25
- MetaSVM -0.60
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available