K116R (p.Lys116Arg) variant of TECRL (Q5HYJ1)
K116R (p.Lys116Arg) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
K116R (p.Lys116Arg) variant details
- p.Lys116Arg
- gnomAD rs1188457570
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available