G79V (p.Gly79Val) variant of TERF2 (Q15554)
G79V (p.Gly79Val) 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 and structural context.
G79V (p.Gly79Val) variant details
- p.Gly79Val
- TOPMed rs2014177100
- gnomAD rs2014177100
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -1.03
- CADD 22.70
- PolyPhen-2 0.35
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available