P25L (p.Pro25Leu) variant of TERF2 (Q15554)
P25L (p.Pro25Leu) 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.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- ExAC rs749171225
- TOPMed rs749171225
- gnomAD rs749171225
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- CADD 24.60
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 0.002)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.235