A15T (p.Ala15Thr) variant of TECRL (Q5HYJ1)
A15T (p.Ala15Thr) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- rs981827180
- ClinGen CA98684199
- NCI-TCGA Cosmic COSV6708
- cosmic curated COSV67086
- Uncertain significance
- Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available