G15D (p.Gly15Asp) variant of TERF2 (Q15554)
G15D (p.Gly15Asp) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- gnomAD rs2014189586
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.642