I73V (p.Ile73Val) variant of TECRL (Q5HYJ1)
I73V (p.Ile73Val) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I73V (p.Ile73Val) variant details
- p.Ile73Val
- ExAC rs768375298
- TOPMed rs768375298
- gnomAD rs768375298
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.80
- PolyPhen-2 0.37
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available