H54N (p.His54Asn) variant of TECRL (Q5HYJ1)
H54N (p.His54Asn) 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.
H54N (p.His54Asn) variant details
- p.His54Asn
- Ensembl rs2109805482
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 18.90
- PolyPhen-2 0.24
- SIFT 0.05
- Most common in the 1KG:TSI population (allele frequency 0.0058)
- Structural context available