G76V (p.Gly76Val) variant of TERF2 (Q15554)
G76V (p.Gly76Val) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G76V (p.Gly76Val) variant details
- p.Gly76Val
- TOPMed rs1277309168
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.07
- CADD 22.90
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available