S80S (p.Ser80Ser) variant of TECTA (Alpha-tectorin)
S80S (p.Ser80Ser) in TECTA (Alpha-tectorin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S80S (p.Ser80Ser) variant details
- p.Ser80Ser
- rs142064539
- gnomAD 11-121109252-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 9.51
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)