E61K (p.Glu61Lys) variant of TECRL (Q5HYJ1)
E61K (p.Glu61Lys) in TECRL (Q5HYJ1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E61K (p.Glu61Lys) variant details
- p.Glu61Lys
- rs966437961
- NCI-TCGA Cosmic COSV6708
- cosmic curated COSV67088
- TOPMed rs966437961
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.51
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available