S42T (p.Ser42Thr) variant of TECRL (Q5HYJ1)
S42T (p.Ser42Thr) 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 0.15 / 1. The record also includes population frequency data and structural context.
S42T (p.Ser42Thr) variant details
- p.Ser42Thr
- ExAC rs745931892
- gnomAD rs745931892
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.00
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available