A21T (p.Ala21Thr) variant of TERF2 (Q15554)
A21T (p.Ala21Thr) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- TOPMed rs2014188201
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 9.35
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.123