G36C (p.Gly36Cys) variant of TERF2 (Q15554)
G36C (p.Gly36Cys) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G36C (p.Gly36Cys) variant details
- p.Gly36Cys
- Ensembl rs2014185120
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.614