H137Q (p.His137Gln) variant of TERF2 (Q15554)
H137Q (p.His137Gln) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
H137Q (p.His137Gln) variant details
- p.His137Gln
- ExAC rs781470092
- TOPMed rs781470092
- gnomAD rs781470092
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.24
- MetaLR 0.03
- MetaSVM -1.00
- CADD 0.59
- PolyPhen-2 0.12
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available