V77A (p.Val77Ala) variant of TECTA (Alpha-tectorin)
V77A (p.Val77Ala) 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 0.37 / 1. The record also includes structural context.
V77A (p.Val77Ala) variant details
- p.Val77Ala
- rs2135054815
- ClinGen CA383020477
- ClinVar RCV001978544
- Ensembl rs2135054815
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.41
- MetaLR 0.19
- MetaSVM -0.94
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available