A16P (p.Ala16Pro) variant of TECTA (Alpha-tectorin)
A16P (p.Ala16Pro) in TECTA (Alpha-tectorin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A16P (p.Ala16Pro) variant details
- p.Ala16Pro
- ESP rs149919658
- ExAC rs149919658
- TOPMed rs149919658
- gnomAD rs149919658
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.22
- MetaLR 0.07
- MetaSVM -1.03
- CADD 20.30
- PolyPhen-2 0.08
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available