S140F (p.Ser140Phe) variant of TERF2 (Q15554)
S140F (p.Ser140Phe) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S140F (p.Ser140Phe) variant details
- p.Ser140Phe
- TOPMed rs937154078
- gnomAD rs937154078
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.14
- MetaLR 0.11
- MetaSVM -0.83
- CADD 27.10
- PolyPhen-2 0.95
- SIFT 0.21
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available