Q24R (p.Gln24Arg) variant of TERF2 (Q15554)
Q24R (p.Gln24Arg) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- Ensembl rs2014187321
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 25.00
- PolyPhen-2 0.89
- SIFT 0.22
- Most common in the South Asian population (allele frequency 5.1e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.778