E136D (p.Glu136Asp) variant of TERF2 (Q15554)
E136D (p.Glu136Asp) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E136D (p.Glu136Asp) variant details
- p.Glu136Asp
- gnomAD rs2014159587
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.01
- MetaLR 0.05
- MetaSVM -1.04
- CADD 18.40
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available