R38Q (p.Arg38Gln) variant of TERF2 (Q15554)
R38Q (p.Arg38Gln) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- TOPMed rs952482978
- gnomAD rs952482978
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 25.30
- PolyPhen-2 0.95
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00034)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.717