Y66C (p.Tyr66Cys) variant of TECTA (Alpha-tectorin)
Y66C (p.Tyr66Cys) 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 0.72 / 1. The record also includes population frequency data and structural context.
Y66C (p.Tyr66Cys) variant details
- p.Tyr66Cys
- rs745665835
- ExAC rs745665835
- TOPMed rs745665835
- gnomAD rs745665835
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.76
- MetaLR 0.62
- MetaSVM 0.42
- CADD 32.00
- PolyPhen-2 0.75
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available