P14L (p.Pro14Leu) variant of TERF2 (Q15554)
P14L (p.Pro14Leu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- TOPMed rs1435970131
- gnomAD rs1435970131
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 24.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.217