V17L (p.Val17Leu) variant of TERF2 (Q15554)
V17L (p.Val17Leu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- TOPMed rs2014189042
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 23.10
- PolyPhen-2 0.90
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 8.1e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.136