V67L (p.Val67Leu) variant of TECTA (Alpha-tectorin)
V67L (p.Val67Leu) 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 0.48 / 1. The record also includes structural context.
V67L (p.Val67Leu) variant details
- p.Val67Leu
- rs1946420757
- ClinGen CA383020407
- ClinVar RCV003548582
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- AlphaMissense 0.15
- MetaLR 0.47
- MetaSVM -0.25
- PolyPhen-2 0.23
- SIFT 0.00
- EVE 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available