D117N (p.Asp117Asn) variant of TECRL (Q5HYJ1)
D117N (p.Asp117Asn) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
D117N (p.Asp117Asn) variant details
- p.Asp117Asn
- gnomAD rs1484106689
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.38
- ESM-1b 0.50
- AlphaMissense 0.24
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available