A9S (p.Ala9Ser) variant of TECRL (Q5HYJ1)
A9S (p.Ala9Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- rs373269339
- ClinGen CA98684248
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10116
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0933
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 7.66
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available