H59D (p.His59Asp) variant of TECRL (Q5HYJ1)
H59D (p.His59Asp) in TECRL (Q5HYJ1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
H59D (p.His59Asp) variant details
- p.His59Asp
- ExAC rs752006303
- gnomAD rs752006303
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.11
- MetaSVM -1.00
- CADD 17.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available