K116E (p.Lys116Glu) variant of TECRL (Q5HYJ1)
K116E (p.Lys116Glu) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K116E (p.Lys116Glu) variant details
- p.Lys116Glu
- gnomAD rs1256323949
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available