H73Y (p.His73Tyr) variant of TERF2 (Q15554)
H73Y (p.His73Tyr) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
H73Y (p.His73Tyr) variant details
- p.His73Tyr
- rs368708983
- gnomAD 16-69356985-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 12.40
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available