I75V (p.Ile75Val) variant of TECRL (Q5HYJ1)
I75V (p.Ile75Val) 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 0.22 / 1. The record also includes population frequency data and structural context.
I75V (p.Ile75Val) variant details
- p.Ile75Val
- ESP rs371667621
- ExAC rs371667621
- TOPMed rs371667621
- gnomAD rs371667621
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 16.60
- PolyPhen-2 0.16
- SIFT 0.52
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available