A51E (p.Ala51Glu) variant of TECRL (Q5HYJ1)
A51E (p.Ala51Glu) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A51E (p.Ala51Glu) variant details
- p.Ala51Glu
- gnomAD rs1724934195
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 5.04
- PolyPhen-2 0.25
- SIFT 0.19
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available