K78E (p.Lys78Glu) variant of TECRL (Q5HYJ1)
K78E (p.Lys78Glu) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K78E (p.Lys78Glu) variant details
- p.Lys78Glu
- cosmic curated COSV67089
- gnomAD rs1395467237
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.17
- ESM-1b 0.81
- AlphaMissense 0.29
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available