S50R (p.Ser50Arg) variant of TERF2 (Q15554)
S50R (p.Ser50Arg) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S50R (p.Ser50Arg) variant details
- p.Ser50Arg
- cosmic curated COSV54748
- TOPMed rs1052011598
- gnomAD rs1052011598
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.06
- CADD 23.00
- PolyPhen-2 0.34
- SIFT 0.34
- Most common in the REMAINING population (allele frequency 2.1e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.456