D117Y (p.Asp117Tyr) variant of TECRL (Q5HYJ1)
D117Y (p.Asp117Tyr) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D117Y (p.Asp117Tyr) variant details
- p.Asp117Tyr
- gnomAD rs1484106689
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.63
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available