L78V (p.Leu78Val) variant of TECTA (Alpha-tectorin)
L78V (p.Leu78Val) 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 0.29 / 1. The record also includes population frequency data and structural context.
L78V (p.Leu78Val) variant details
- p.Leu78Val
- rs2496891356
- ClinGen CA383020480
- ClinVar RCV003319875
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.16
- MetaLR 0.26
- MetaSVM -0.62
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available