R122Q (p.Arg122Gln) variant of TERF2 (Q15554)
R122Q (p.Arg122Gln) 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 and structural context.
R122Q (p.Arg122Gln) variant details
- p.Arg122Gln
- gnomAD rs1247479774
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.19
- MetaLR 0.25
- MetaSVM -0.64
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available