S102A (p.Ser102Ala) variant of TECRL (Q5HYJ1)
S102A (p.Ser102Ala) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar 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 0.27 / 1. The record also includes population frequency data and structural context.
S102A (p.Ser102Ala) variant details
- p.Ser102Ala
- TOPMed rs1718413682
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.00
- PolyPhen-2 0.58
- SIFT 0.87
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available