V40L (p.Val40Leu) variant of TECRL (Q5HYJ1)
V40L (p.Val40Leu) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, 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 0.28 / 1. The record also includes population frequency data and structural context.
V40L (p.Val40Leu) variant details
- p.Val40Leu
- rs1189145732
- ClinGen CA357149206
- ClinVar RCV002342959
- Ensembl rs1189145732
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available