C110T (p.Cys110Thr) variant of TECRL (Q5HYJ1)
C110T (p.Cys110Thr) 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 0.43 / 1. The record also includes population frequency data and structural context.
C110T (p.Cys110Thr) variant details
- p.Cys110Thr
- rs781536953
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10116
- ClinGen CA2935570
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.14
- MetaLR 0.23
- MetaSVM -0.71
- PolyPhen-2 0.99
- SIFT 0.35
- EVE 0.54
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available