R63L (p.Arg63Leu) variant of TECTA (Alpha-tectorin)
R63L (p.Arg63Leu) in TECTA (Alpha-tectorin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R63L (p.Arg63Leu) variant details
- p.Arg63Leu
- rs757192942
- ExAC rs757192942
- TOPMed rs757192942
- gnomAD rs757192942
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.57
- MetaLR 0.52
- MetaSVM 0.04
- CADD 27.50
- PolyPhen-2 0.87
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available