T42A (p.Thr42Ala) variant of TERF2 (Q15554)
T42A (p.Thr42Ala) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T42A (p.Thr42Ala) variant details
- p.Thr42Ala
- gnomAD rs1451432183
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.448