L76P (p.Leu76Pro) variant of TECRL (Q5HYJ1)
L76P (p.Leu76Pro) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L76P (p.Leu76Pro) variant details
- p.Leu76Pro
- ExAC rs755732929
- gnomAD rs755732929
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.69
- CADD 24.20
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available