I64L (p.Ile64Leu) variant of TECRL (Q5HYJ1)
I64L (p.Ile64Leu) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I64L (p.Ile64Leu) variant details
- p.Ile64Leu
- cosmic curated COSV10971
- gnomAD rs1253613798
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 20.50
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available