K27R (p.Lys27Arg) variant of TERF2 (Q15554)
K27R (p.Lys27Arg) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K27R (p.Lys27Arg) variant details
- p.Lys27Arg
- gnomAD rs1422468080
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 24.10
- PolyPhen-2 0.95
- SIFT 0.49
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.919