A16V (p.Ala16Val) variant of TECTA (Alpha-tectorin)
A16V (p.Ala16Val) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs2135046540
- ClinGen CA383019463
- ClinVar RCV001769048
- Ensembl rs2135046540
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- AlphaMissense 0.10
- MetaLR 0.05
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.59
- MutPred 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available