V77L (p.Val77Leu) variant of TECTA (Alpha-tectorin)
V77L (p.Val77Leu) 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 0.43 / 1. The record also includes population frequency data and structural context.
V77L (p.Val77Leu) variant details
- p.Val77Leu
- rs1045493065
- ClinGen CA229829055
- ClinVar RCV001581639
- TOPMed rs1045493065
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.26
- MetaLR 0.31
- MetaSVM -0.60
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available