Q126L (p.Gln126Leu) variant of TERF2 (Q15554)
Q126L (p.Gln126Leu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q126L (p.Gln126Leu) variant details
- p.Gln126Leu
- gnomAD rs1466400497
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.26
- MetaLR 0.24
- MetaSVM -0.59
- CADD 33.00
- PolyPhen-2 0.82
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.0001)
- Structural context available