G47S (p.Gly47Ser) variant of TERF2 (Q15554)
G47S (p.Gly47Ser) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G47S (p.Gly47Ser) variant details
- p.Gly47Ser
- TOPMed rs2014182695
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.03
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 8.2e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score 0.015