P25Q (p.Pro25Gln) variant of TERF2 (Q15554)
P25Q (p.Pro25Gln) 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.
P25Q (p.Pro25Gln) variant details
- p.Pro25Gln
- ExAC rs749171225
- TOPMed rs749171225
- gnomAD rs749171225
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 24.30
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.235