G6V (p.Gly6Val) variant of TERF2 (Q15554)
G6V (p.Gly6Val) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- TOPMed rs936749110
- gnomAD rs936749110
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score 0.192