I62T (p.Ile62Thr) variant of TECRL (Q5HYJ1)
I62T (p.Ile62Thr) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
I62T (p.Ile62Thr) variant details
- p.Ile62Thr
- TOPMed rs1453552815
- gnomAD rs1453552815
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.39
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available