W10S (p.Trp10Ser) variant of TECTA (Alpha-tectorin)
W10S (p.Trp10Ser) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Autosomal dominant nonsyndromic hearing loss 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
W10S (p.Trp10Ser) variant details
- p.Trp10Ser
- rs1591433475
- ClinGen CA383019381
- ClinVar RCV001002760
- Ensembl rs1591433475
- Likely benign
- Autosomal dominant nonsyndromic hearing loss 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.19
- MetaLR 0.09
- MetaSVM -0.99
- CADD 23.90
- PolyPhen-2 0.14
- SIFT 0.02
- ClinVar: Likely benign (Autosomal dominant nonsyndromic hearing loss 12)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)