R47I (p.Arg47Ile) variant of TECRL (Q5HYJ1)
R47I (p.Arg47Ile) 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 0.07 / 1. The record also includes population frequency data and structural context.
R47I (p.Arg47Ile) variant details
- p.Arg47Ile
- rs1253517369
- gnomAD rs1253517369
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0734
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 4.73
- PolyPhen-2 0.03
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available