A9T (p.Ala9Thr) variant of TECRL (Q5HYJ1)
A9T (p.Ala9Thr) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs373269339
- ClinGen CA2935715
- cosmic curated COSV10469
- ClinVar RCV002426233
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 7.78
- PolyPhen-2 0.06
- SIFT 0.58
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available