S64N (p.Ser64Asn) variant of TERF2 (Q15554)
S64N (p.Ser64Asn) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S64N (p.Ser64Asn) variant details
- p.Ser64Asn
- TOPMed rs1410466012
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.03
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available